当前位置： SCI文献检索 > Stem Cell Research期刊下所有文献 > Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous Y275X mutation in CYP7B1 (SPG5).

Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous Y275X mutation in CYP7B1 (SPG5).

Abstract：

:Skin fibroblasts were obtained from a 47-year-old hereditary spastic paraplegia patient carrying a homozygous mutation Y275X in CYP7B1 (Cytochrome P450, Family 7, Subfamily B, Polypeptide 1), responsible for causing hereditary spastic paraplegia type 5 (SPG5). Induced pluripotent stem cells (iPSCs) were generated by transfection with episomal plasmids carrying hOCT4, hSOX2, hKLF4, hL-MYC and hLIN28. The generated line iPS-SPG5-Y275X was transgene-free, retained the specific mutation with no additional genomic aberrations, expressed pluripotency markers and was able to differentiate into cells of all germ layers in vitro. The generated iPS-SPG5-Y275X line may be a useful resource for disease modelling of SPG5.

journal_name

Stem Cell Res

journal_title

Stem cell research

authors

Hauser S,Höflinger P,Theurer Y,Rattay TW,Schöls L

doi

10.1016/j.scr.2016.09.011

subject

Has Abstract

pub_date

2016-09-01 00:00:00

pages

437-440

issue

2

eissn

1873-5061

issn

1876-7753

pii

S1873-5061(16)30125-8

journal_volume

17

pub_type

杂志文章

相关文献

Stem Cell Research文献大全
  • Reporter gene-engineering of human induced pluripotent stem cells during differentiation renders in vivo traceable hepatocyte-like cells accessible.

    abstract：:Primary hepatocyte transplantation (HTx) is a safe cell therapy for patients with liver disease, but wider application is circumvented by poor cell engraftment due to limitations in hepatocyte quality and transplantation strategies. Hepatocyte-like cells (HLCs) derived from human induced pluripotent stem cells (hiPSC)...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2019.101599

    authors： Ashmore-Harris C,Blackford SJ,Grimsdell B,Kurtys E,Glatz MC,Rashid TS,Fruhwirth GO

    更新日期：2019-12-01 00:00:00

  • Derivation of LIF-independent mouse iPS cells with modified Oct4.

    abstract：:It has been very difficult, if not impossible, to establish mouse induced pluripotent stem cells (iPSCs) from differentiated cells, such as fibroblasts, without leukemia inhibitory factor (LIF). We have established and maintained LIF-independent iPSCs for longer than 120 days with modified Oct4 along with Sox2, Klf4, ...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2015.08.005

    authors： Hirai H,Firpo M,Kikyo N

    更新日期：2015-09-01 00:00:00

  • Transgenic human ES and iPS reporter cell lines for identification and selection of pluripotent stem cells in vitro.

    abstract：:Optimization of pluripotent stem cell expansion and differentiation is facilitated by biological tools that permit non-invasive and dynamic monitoring of pluripotency, and the ability to select for an undifferentiated input cell population. Here we report on the generation and characterisation of clonal human embryoni...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2014.05.006

    authors： Ovchinnikov DA,Titmarsh DM,Fortuna PR,Hidalgo A,Alharbi S,Whitworth DJ,Cooper-White JJ,Wolvetang EJ

    更新日期：2014-09-01 00:00:00

  • Establishment of TUSMi007-A, an induced pluripotent stem cell (iPSC) line from an 83-year old Chinese Han patient with Alzheimer's disease (AD).

    abstract：:An 83-year old Alzheimer's disease (AD) male patient donated his Peripheral blood mononuclear cells (PBMC). The non-integrating episomal vector system used to reprogram PBMCs with the human OKSM transcription factors. The pluripotency of transgene-free iPSCs was confirmed by immunocytochemistry for pluripotency marker...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2018.11.008

    authors： Wang Y,Zhang J,Lei Y,Zhao J

    更新日期：2018-12-01 00:00:00

  • Generation of a GDE heterozygous mutation human embryonic stem cell line WAe001-A-14 by CRISPR/Cas9 editing.

    abstract：:Glycogen debranching enzyme (GDE) plays a critical role in glycogenolysis. Mutations in the GDE gene are associated with a metabolic disease known as glycogen storage disease type III (GSDIII). We generated a mutant GDE human embryonic stem cell line, WAe001-A-14, using the CRISPR/Cas9 editing system. This cell line c...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2017.12.009

    authors： Xu G,Guo D,Wu F,Abbas N,Lai K,Yuan F,You K,Liu Y,Zhuang Y,Wu Y,Xu Y,Chen Y,Yang F,Pan T,Li YX

    更新日期：2018-03-01 00:00:00

  • Generation of the human induced pluripotent stem cell (hiPSC) line PSMi003-A from a patient affected by an autosomal recessive form of Long QT Syndrome type 1.

    abstract：:We generated human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a 51years old female patient homozygous for the mutation c.535 G>A p.G179S on the KCNQ1 gene, causing a severe form of autosomal recessive Long QT Syndrome type 1 (AR-LQT1), not associated with deafness. The hiPSCs, generated using f...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2018.04.003

    authors： Mura M,Ginevrino M,Zappatore R,Pisano F,Boni M,Castelletti S,Crotti L,Valente EM,Schwartz PJ,Gnecchi M

    更新日期：2018-05-01 00:00:00

  • Mesenchymal stromal cells up-regulate CD39 and increase adenosine production to suppress activated T-lymphocytes.

    abstract：:Mesenchymal stromal cells (MSCs) suppress T cell responses through mechanisms not completely understood. Adenosine is a strong immunosuppressant that acts mainly through its receptor A(2a) (ADORA2A). Extracellular adenosine levels are a net result of its production (mediated by CD39 and CD73), and of its conversion in...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2011.04.001

    authors： Saldanha-Araujo F,Ferreira FI,Palma PV,Araujo AG,Queiroz RH,Covas DT,Zago MA,Panepucci RA

    更新日期：2011-07-01 00:00:00

  • Scalable expansion of human induced pluripotent stem cells in the defined xeno-free E8 medium under adherent and suspension culture conditions.

    abstract：:Large-scale production of human induced pluripotent stem cells (hiPSCs) by robust and economic methods has been one of the major challenges for translational realization of hiPSC technology. Here we demonstrate a scalable culture system for hiPSC expansion using the E8 chemically defined and xeno-free medium under eit...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2013.07.011

    authors： Wang Y,Chou BK,Dowey S,He C,Gerecht S,Cheng L

    更新日期：2013-11-01 00:00:00

  • Intra-subject variability in human bone marrow stromal cell (BMSC) replicative senescence: molecular changes associated with BMSC senescence.

    abstract：:The outcomes of clinical trials using bone marrow stromal cell (BMSC) are variable; the degree of the expansion of BMSCs during clinical manufacturing may contribute to this variability since cell expansion is limited by senescence. Human BMSCs from aspirates of healthy subjects were subcultured serially until cell gr...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2013.07.005

    authors： Ren J,Stroncek DF,Zhao Y,Jin P,Castiello L,Civini S,Wang H,Feng J,Tran K,Kuznetsov SA,Robey PG,Sabatino M

    更新日期：2013-11-01 00:00:00

  • Murine transgenic iPS cell line for monitoring and selection of cardiomyocytes.

    abstract：:We report here a transgenic murine induced pluripotent stem cell (iPSC) line expressing puromycin N-acetyltransferase (PAC) and enhanced green fluorescent protein (EGFP) under the control of α-myosin heavy chain promoter. This transgenic cell line reproducibly differentiates into EGFP-expressing cardiomyocytes (CMs) w...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2016.07.007

    authors： Fatima A,Xu G,Nguemo F,Kuzmenkin A,Burkert K,Hescheler J,Šarić T

    更新日期：2016-09-01 00:00:00

  • Generation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering Williams-Beuren syndrome (7q11.23 deletion).

    abstract：:Skin fibroblasts were obtained from four patients with Williams-Beuren syndrome (WBS) carrying the typical 1.5 Mb or 1.8 Mb deletion at the 7q11.23 genomic region. Induced pluripotent stem cells (iPSCs) were generated by retroviral infection of fibroblasts with polycystronic vectors. The generated iPSC clones ESi059A,...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2020.102087

    authors： Kuebler B,Aran B,Flores R,Pérez-Jurado LA,Veiga A,Corominas R,Cuscó I

    更新日期：2020-12-01 00:00:00

  • Establishment of a rabbit induced pluripotent stem cell (RbiPSC) line using lentiviral delivery of human pluripotency factors.

    abstract：:Rabbit Embryonic Fibroblast (RbEF) cells (from Hycole hybrid rabbit foetus) were reprogrammed by lentiviral delivery of a self-silencing hOKSM polycistronic vector. The pluripotency of the newly generated RbiPSC was verified by the expression of pluripotency-associated markers and by in vitro spontaneous differentiati...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2017.03.010

    authors： Táncos Z,Nemes C,Varga E,Bock I,Rungarunlert S,Tharasanit T,Techakumphu M,Kobolák J,Dinnyés A

    更新日期：2017-05-01 00:00:00

  • Generation of a gene corrected human isogenic IBMS-iPSC-014-C from polycystic-kidney-disease induced pluripotent stem cell line using CRISPR/Cas9.

    abstract：:We report the engendering an isogenic iPSC line from the IBMS-iPSC-014-05 with homozygous correction of the R803X, Chr4: 88989098C > T in PKD2, using CRISPR/Cas9 technology. The results from the isogenic control, IBMS-iPSC-014-05C, showed that mutation had been corrected, while maintaining normal morphology, pluripote...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2020.101784

    authors： Liu CL,Huang CY,Chen HC,Lu HE,Hsieh PCH,Lee JJ

    更新日期：2020-05-01 00:00:00

  • Generation of three induced pluripotent stem cell lines from postmortem tissue derived following sudden death of a young patient with STXBP1 mutation.

    abstract：:We established three iPSC lines from postmortem-cultured fibroblasts derived following the sudden unexpected death of an 8-year-old girl with Lennox-Gastaut syndrome, who turned out to have the R551H-mutant STXBP1 gene. These iPSC clones showed pluripotent characteristics while retaining the genotype and demonstrated ...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2019.101485

    authors： Yamamoto T,Otsu M,Okumura T,Horie Y,Ueno Y,Taniguchi H,Ohtaka M,Nakanishi M,Abe Y,Murase T,Umehara T,Ikematsu K

    更新日期：2019-08-01 00:00:00

  • Generation of a NKX2.1 - p63 double transgenic knock-in reporter cell line from human induced pluripotent stem cells (MHHi006-A-4).

    abstract：:Tumor protein p63 (p63) encodes for a transcription factor of the p53 family and is a marker for respiratory basal cells. Based on a NKX2.1 knock-in reporter cell line from human induced pluripotent stem cells (hiPSCs) (MHHi06-A-2) we established a NKX2.1/p63 double transgenic knock-in reporter cell line using TALEN t...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2019.101659

    authors： Drick N,Sahabian A,Pongpamorn P,Merkert S,Göhring G,Welte T,Martin U,Olmer R

    更新日期：2020-01-01 00:00:00

  • Derivation and molecular characterization of pancreatic differentiated MODY1-iPSCs.

    abstract：:Maturity onset diabetes of the young (MODY) is a hereditary form of diabetes mellitus presenting at childhood or adolescence, which eventually leads to pancreatic β-cells dysfunction. The underlying genetic basis of MODY disorders is haploinsufficiency, where loss-of-function mutations in a single allele cause the dia...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2018.06.013

    authors： Braverman-Gross C,Nudel N,Ronen D,Beer NL,McCarthy MI,Benvenisty N

    更新日期：2018-08-01 00:00:00

  • Genomic imprinting is variably lost during reprogramming of mouse iPS cells.

    abstract：:Derivation of induced pluripotent stem (iPS) cells is mainly an epigenetic reprogramming process. It is still quite controversial how genomic imprinting is reprogrammed in iPS cells. Thus, we derived multiple iPS clones from genetically identical mouse somatic cells. We found that parentally inherited imprint was vari...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2013.05.011

    authors： Takikawa S,Ray C,Wang X,Shamis Y,Wu TY,Li X

    更新日期：2013-09-01 00:00:00

  • The contribution of human/non-human animal chimeras to stem cell research.

    abstract：:Chimeric animals are made up of cells from two separate zygotes. Human/non-human animal chimeras have been used for a number of research purposes, including human disease modeling. Pluripotent stem cell (PSC) research has relied upon the chimera approach to examine the developmental potential of stem cells, to determi...

    journal_title：Stem cell research

    pub_type： 杂志文章,评审

    doi：10.1016/j.scr.2017.09.005

    authors： Levine S,Grabel L

    更新日期：2017-10-01 00:00:00

  • Hypoxia is a key regulator of limbal epithelial stem cell growth and differentiation.

    abstract：:The aim of this study was to determine whether the growth and differentiation of limbal epithelial stem cell cultures could be controlled through manipulation of the oxygen tension. Limbal epithelial cells were isolated from corneoscleral disks, and cultured using either feeder cells in a growth medium supplemented wi...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2013.01.004

    authors： Bath C,Yang S,Muttuvelu D,Fink T,Emmersen J,Vorum H,Hjortdal J,Zachar V

    更新日期：2013-05-01 00:00:00

  • Generation of KCL018 research grade human embryonic stem cell line carrying a mutation in the DMPK gene.

    abstract：:The KCL018 human embryonic stem cell line was derived from an embryo donated for research that carried an autosomal dominant mutation affecting one allele of the DMPK gene encoding the dystrophia myotonica protein kinase (2200 trinucleotide repeats; 14 for the normal allele). The ICM was isolated using laser microsurg...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2016.01.004

    authors： Miere C,Hewitson H,Devito L,Wood V,Kadeva N,Cornwell G,Codognotto S,Stephenson E,Ilic D

    更新日期：2016-03-01 00:00:00

  • An induced pluripotent stem cell line (SDQLCHi006-A) derived from a patient with maple syrup urine disease type Ib carrying compound heterozygous mutations of p.R168C and p.T322I in BCKDHB gene.

    abstract：:Maple syrup urine disease type Ib (MSUD Ib) is an autosomal recessive genetic metabolic disease caused by homozygous or compound heterozygous mutation in BCKDHB on chromosome 6q14. We generated an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of a 5-day-old boy with MSUD Ib ...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2019.101579

    authors： Li Y,Zhang H,Yan B,Ma Y,Yang X,Guan J,Lv Y,Gao M,Ma J,Gai Z,Liu Y

    更新日期：2019-10-01 00:00:00

  • Derivation of functional ventricular cardiomyocytes using endogenous promoter sequence from murine embryonic stem cells.

    abstract：:The purpose of this study is to establish a murine embryonic stem cell (mESC) line for isolation of functional ventricular cardiomyocytes (VCMs) and then to characterize the derived VCMs. By crossing the myosin light chain 2v (Mlc2v)-Cre mouse line with the reporter strain Rosa26-yellow fluorescent protein (YFP), we g...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2011.08.004

    authors： Lee MY,Sun B,Schliffke S,Yue Z,Ye M,Paavola J,Bozkulak EC,Amos PJ,Ren Y,Ju R,Jung YW,Ge X,Yue L,Ehrlich BE,Qyang Y

    更新日期：2012-01-01 00:00:00

  • Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS).

    abstract：:A skin biopsy was obtained from a 25-year-old female patient with autosomal recessive Alport syndrome (ARAS) with the homozygous COL4A3 mutation c.345delG, p.(P166Lfs*37). Dermal fibroblasts were derived and reprogrammed by nucleofection with episomal plasmids carrying OCT3/4, SOX2, KLF4 LIN28, L-MYC and p53shRNA. The...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2017.08.021

    authors： Kuebler B,Aran B,Miquel-Serra L,Muñoz Y,Ars E,Bullich G,Furlano M,Torra R,Marti M,Veiga A,Raya A

    更新日期：2017-12-01 00:00:00

  • Repair of acute liver damage with immune evasive hESC derived hepato-blasts.

    abstract：:Human embryonic stem cells (hESCs) can undergo unlimited self-renewal and differentiate into hepatic cells, including expandable hepato-blasts (HBs) and hepatocyte-like cells (HLCs) in vitro. Therefore, hESC-derived HBs have the potential to become a renewable cell source for cell therapy of serious liver damage. Howe...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2020.102010

    authors： Liu J,Pan T,Chen Y,Liu Y,Yang F,Chen Q,Abbas N,Zhong M,Zhang Q,Xu Y,Li YX

    更新日期：2020-12-01 00:00:00

  • A quantitative hematopoietic stem cell reconstitution protocol: Accounting for recipient variability, tissue distribution and cell half-lives.

    abstract：:Hematopoietic stem and progenitor cell (HSPC) transplantation is the paradigm for stem cell therapies. The protocol described here enables quantitative assessment of the body-wide HSPC reconstitution of different mature hematopoietic cells in mice based on their presence in circulating blood. The method determines don...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2020.102145

    authors： Rajendiran S,Boyer SW,Forsberg EC

    更新日期：2020-12-29 00:00:00

  • Exosomes from 3D culture of marrow stem cells enhances endothelial cell proliferation, migration, and angiogenesis via activation of the HMGB1/AKT pathway.

    abstract：BACKGROUND:Angiogenesis is an essential step in tissue engineering. MSC exosomes play an important role in angiogenesis. Functional biomolecules in exosomes vested by the culture microenvironment can be transferred to recipient cells and affects their effect. 3D culture can improve the proliferation and activity of MSC...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2020.102122

    authors： Gao W,Liang T,He R,Ren J,Yao H,Wang K,Zhu L,Xu Y

    更新日期：2020-12-10 00:00:00

  • Generation of an induced pluripotent stem cell line SYSUi-004-A from a child of microcephaly with TYW1 mutations.

    abstract：:We generated an induced human pluripotent stem cell line from a child with microcephaly carrying compound heterozygous mutations of TYW1 inherited from healthy parents. This iPS cell line showed typical embryonic stem cell-like morphology, expressed pluripotent markers that comparable to human embryonic stem cells. Mo...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2020.101783

    authors： Sun C,Zhou P,Yuan S,Guo R,Zhang Z,Xu Q,Han D,He L,Tang H,Xu K,Hu H,Li N

    更新日期：2020-05-01 00:00:00

  • Generation of iPSC lines from peripheral blood mononuclear cells from 5 healthy adults.

    abstract：:We describe the generation and characterization of 5 human induced pluripotent stem cell (iPSC) lines derived from peripheral blood mononuclear cells (PBMCs) of healthy adult individuals. The PBMCs were reprogrammed using non-integrating Sendai viruses containing the reprogramming factors POU5F1 (OCT4), SOX2, KLF4 and...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2018.101380

    authors： Vlahos K,Sourris K,Mayberry R,McDonald P,Bruveris FF,Schiesser JV,Bozaoglu K,Lockhart PJ,Stanley EG,Elefanty AG

    更新日期：2019-01-01 00:00:00

  • Transgene expression in various organs post BM-HSC transplantation.

    abstract：:Gene therapy mediated by bone marrow-derived hematopoietic stem cells (BM-HSC) has been widely used in treating genetic deficiencies in both pre-clinical and clinical settings. Using mitotically inactive cell-targeting lentivirus with separate promoters for our gene of interest (the murine MHC class II (MHCII) chapero...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2013.10.010

    authors： Wang N,Rajasekaran N,Hou T,Mellins ED

    更新日期：2014-01-01 00:00:00

  • Lymphoblast-derived integration-free iPSC lines from a female and male Alzheimer's disease patient expressing different copy numbers of a coding CNV in the Alzheimer risk gene CR1.

    abstract：:Human lymphoblast cells from a female and male patient diagnosed with Alzheimer's disease (AD) with different genotypes of a functional copy number variation (CNV) in the AD risk gene CR1 were used to generate integration-free induced pluripotent stem cells (iPSCs) employing episomal plasmids expressing OCT4, SOX2, NA...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2016.10.003

    authors： Schröter F,Sleegers K,Van Cauwenberghe C,Bohndorf M,Wruck W,Van Broeckhoven C,Adjaye J

    更新日期：2016-11-01 00:00:00