当前位置： SCI文献检索 > Stem Cell Research期刊下所有文献 > Generation of an induced pluripotent stem cell line (CHFUi001-A) from an osteogenesis imperfecta patient with COL1A2 mutation.

Generation of an induced pluripotent stem cell line (CHFUi001-A) from an osteogenesis imperfecta patient with COL1A2 mutation.

Abstract：

:Osteogenesis Imperfecta (OI) is a rare autosomal dominant metabolic disorder caused by heterozygous mutations in the COL1A1 or COL1A2 genes, which encode the pro-α1(I) and pro-α2(I) chains of type I procollagen, respectively. A human induced pluripotent stem cell (iPSC) line, termed as CHFUi001-A, was generated from peripheral blood mononuclear cells (PBMCs) of a 5-year-old female patient with OI, who had a heterozygous (c.928G > A:p.G328S) mutation in the COL1A2 gene, using non-integrating episomal vector technique. CHFUi001-A offers a useful resource to investigate pathogenic mechanisms in OI, as well as a cell-based model for drug development to treat OI.

journal_name

Stem Cell Res

journal_title

Stem cell research

authors

Zheng Z,Lu W,Pei Z,Chen J,Yang T,Luo F

doi

10.1016/j.scr.2020.101907

subject

Has Abstract

pub_date

2020-07-05 00:00:00

pages

101907

eissn

1873-5061

issn

1876-7753

pii

S1873-5061(20)30208-7

journal_volume

47

pub_type

杂志文章

相关文献

Stem Cell Research文献大全
  • Skeletal muscle pericyte subtypes differ in their differentiation potential.

    abstract：:Neural progenitor cells have been proposed as a therapy for central nervous system disorders, including neurodegenerative diseases and trauma injuries, however their accessibility is a major limitation. We recently isolated Tuj1+ cells from skeletal muscle culture of Nestin-GFP transgenic mice however whether they for...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2012.09.003

    authors： Birbrair A,Zhang T,Wang ZM,Messi ML,Enikolopov GN,Mintz A,Delbono O

    更新日期：2013-01-01 00:00:00

  • The Global Alliance for iPSC Therapies (GAiT).

    abstract：:The Global Alliance for iPSC Therapies (GAiT) is a new initiative to support the implementation and clinical application of therapies derived from pluripotent stem cells to the benefit of patients globally. GAiT's mission is to serve as a central, international resource for those organisations developing therapies fro...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2020.102036

    authors： Sullivan S,Ginty P,McMahon S,May M,Solomon SL,Kurtz A,Stacey GN,Bennaceur Griscelli A,Li RA,Barry J,Song J,Turner ML

    更新日期：2020-12-01 00:00:00

  • Establishment of integration free iPSC clones, NCCSi011-A and NCCSi011-B from a liver cirrhosis patient of Indian origin with hepatic encephalopathy.

    abstract：:Liver cirrhosis accompanied with hepatic encephalopathy commonly causes cognitive impairment in patients. To model this disease, two independent patient specific induced pluripotent stem cell-line (iPSC) clones, NCCSi011-A and NCCSi011-B were generated by reprogramming the CD4+ T cells of an Indian male patient suffer...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2020.101992

    authors： Vaidyanath A,Khan M,Vaishnav B,Kakrani AL,Patil S,Shiras A

    更新日期：2020-10-01 00:00:00

  • Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) and missense c.4627G>T, p.(Asp1543Tyr) mutations.

    abstract：:Rubinstein-Taybi syndrome (RSTS) is a neurodevelopmental disorder characterized by growth retardation, skeletal anomalies and intellectual disability, caused by heterozygous mutations in either CREBBP (RSTS1) or EP300 (RSTS2) genes. We characterized 3 iPSC lines generated by Sendai from blood of RSTS1 patients with un...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2019.101553

    authors： Alari V,Russo S,Rovina D,Garzo M,Crippa M,Calzari L,Scalera C,Concolino D,Castiglioni E,Giardino D,Prosperi E,Finelli P,Gervasini C,Gowran A,Larizza L

    更新日期：2019-10-01 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

  • Generation of iPSC lines from primary human amniotic fluid cells.

    abstract：:By means of retroviral transduction using the four Yamanaka-factors OCT4, SOX2, KLF4 and c-MYC primary human amniotic fluid cells (AFCs) were reprogrammed into several iPSC lines. Pluripotency was confirmed both in vitro and in vivo. A comparative transcriptome analysis of the AF-derived iPSC line 41 and the human emb...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2015.11.003

    authors： Drews K,Matz P,Adjaye J

    更新日期：2015-11-01 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

  • Inhibition of focal adhesion kinase increases adult olfactory stem cell self-renewal and neuroregeneration through ciliary neurotrophic factor.

    abstract：:Constant neuroregeneration in adult olfactory epithelium maintains olfactory function by basal stem cell proliferation and differentiation to replace lost olfactory sensory neurons (OSNs). Understanding the mechanisms regulating this process could reveal potential therapeutic targets for stimulating adult olfactory ne...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2020.102061

    authors： Jia C,Oliver J,Gilmer D,Lovins C,Rodriguez-Gil DJ,Hagg T

    更新日期：2020-12-01 00:00:00

  • The role of nuclear receptors in the differentiation of oligodendrocyte precursor cells derived from fetal and adult neural stem cells.

    abstract：:Oligodendrocyte precursor cells (OPCs) differentiation from multipotent neural stem cells (NSCs) into mature oligodendrocytes is driven by thyroid hormone and mediated by thyroid hormone receptors (TRs). We show that several nuclear receptors display strong changes in expression levels between fetal and adult NSCs, wi...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2019.101443

    authors： Baldassarro VA,Krężel W,Fernández M,Schuhbaur B,Giardino L,Calzà L

    更新日期：2019-05-01 00:00:00

  • Knockdown of SVCT2 impairs in-vitro cell attachment, migration and wound healing in bone marrow stromal cells.

    abstract：:Bone marrow stromal cell (BMSC) adhesion and migration are fundamental to a number of pathophysiologic processes, including fracture and wound healing. Vitamin C is beneficial for bone formation, fracture repair and wound healing. However, the role of the vitamin C transporter in BMSC adhesion, migration and wound hea...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2013.11.002

    authors： Sangani R,Pandya CD,Bhattacharyya MH,Periyasamy-Thandavan S,Chutkan N,Markand S,Hill WD,Hamrick M,Isales C,Fulzele S

    更新日期：2014-03-01 00:00:00

  • Generation of a heterozygous C-peptide-mCherry reporter human iPSC line (HMGUi001-A-8).

    abstract：:The peptide hormone insulin produced by pancreatic β-cells undergoes post-transcriptional processing before secretion. In particular, C-peptide is cleaved from pro-insulin to generate mature insulin. Here, we introduce a C-peptide-mCherry human iPSC line (HMGUi001-A-8). The line was generated by CRISPR/Cas9 mediated h...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2020.102126

    authors： Siehler J,Blöchinger AK,Akgün M,Wang X,Shahryari A,Geerlof A,Lickert H,Burtscher I

    更新日期：2020-12-16 00:00:00

  • Generation of induced pluripotent stem cell line (XDCMHi001-A) from an Ankylosing spondylitis patient with JAK2 mutation.

    abstract：:Heredity is the major factor contributing to the susceptibility to ankylosing spondylitis(AS). Janus kinase 2 (JAK2) has been associated with AS. Urine-derived cells from an AS patient with JAK2 mutation were used to generate induced pluripotent stem cells (iPSCs) with five episomal iPSC reprogramming vectors (pCXLE-h...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2020.101788

    authors： Hu J,Ren W,Qiu W,Lv J,Zhang C,Xu C,DU W,Wu M,Wang J,Quan R

    更新日期：2020-05-01 00:00:00

  • Generation of the human induced pluripotent stem cell line (SHAMUi001-A) carrying the heterozygous c.-128G>T mutation in the 5'-UTR of the ANKRD26 gene.

    abstract：:Thrombocytopenia 2 (THC2) is a major type of inherited thrombocytopenia caused by the persistent ANKRD26 expression during the late stage of megakaryocytopoiesis. For the first time, we generated a human induced pluripotent stem cell (hiPSC) line SHAMUi001-A from the bone marrow hematopoietic progenitor cells of a THC...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2020.102002

    authors： Tan C,Dai L,Yang W,Li F,Wang L,Xiao Y,Wang X,Zhang Y,Wang Y,Zeng C,Xiang Z,Zhang X,Zhang W,Ran Q,Chen M,Li Z,Chen L

    更新日期：2020-10-01 00:00:00

  • A novel variant of Oct3/4 gene in mouse embryonic stem cells.

    abstract：:OCT4 is a highly conserved gene and plays an important role during early embryonic development and differentiation. Similar to human OCT4, mouse Oct4 gene generates variants. Oct4A is a master regulator of self-renewal in pluripotent stem cells. In this study, we have identified a novel Oct4 spliced variant, designate...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2012.04.004

    authors： Guo CL,Liu L,Jia YD,Zhao XY,Zhou Q,Wang L

    更新日期：2012-09-01 00:00:00

  • The (not so) immortal strand hypothesis.

    abstract：BACKGROUND:Non-random segregation of DNA strands during stem cell replication has been proposed as a mechanism to minimize accumulated genetic errors in stem cells of rapidly dividing tissues. According to this hypothesis, an "immortal" DNA strand is passed to the stem cell daughter and not the more differentiated cell...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2015.01.005

    authors： Tomasetti C,Bozic I

    更新日期：2015-03-01 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

  • 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

  • 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

  • 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 t...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2016.09.011

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

    更新日期：2016-09-01 00:00:00

  • Integration of BMP/Wnt signaling to control clonal growth of limbal epithelial progenitor cells by niche cells.

    abstract：:Both BMP and Wnt signaling control stem cells in bulge/dermal papilla, intestinal crypt, and bone marrow. To explore their roles in the limbal niche, which govern corneal epithelial homeostasis, we established an in vitro model of sphere growth by reunion between single limbal epithelial progenitor cells (LEPCs) and a...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2014.01.003

    authors： Han B,Chen SY,Zhu YT,Tseng SC

    更新日期：2014-03-01 00:00:00

  • Generation of a heterozygous COL1A1 (c.3969_3970insT) osteogenesis imperfecta mutation human iPSC line, MCRIi001-A-1, using CRISPR/Cas9 editing.

    abstract：:To develop a disease model for the human 'brittle bone' disease, osteogenesis imperfecta, we have used gene editing to produce a facsimile of the patient heterozygous COL1A1 mutation in an established control iPSC line. The gene-edited line had a normal karyotype, expressed pluripotency markers and differentiated into...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2019.101449

    authors： Hosseini Far H,Patria YN,Motazedian A,Elefanty AG,Stanley EG,Lamandé SR,Bateman JF

    更新日期：2019-05-01 00:00:00

  • Detection of mouse endogenous type B astrocytes migrating towards brain lesions.

    abstract：:Neuroblasts represent the predominant migrating cell type in the adult mouse brain. There are, however, increasing evidences of migration of other neural precursors. This work aims at identifying in vivo endogenous early neural precursors, different from neuroblasts, able to migrate in response to brain injuries. The ...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2014.11.006

    authors： Elvira G,García I,Gallo J,Benito M,Montesinos P,Holgado-Martin E,Ayuso-Sacido A,Penadés S,Desco M,Silva A,Garcia-Sanz JA

    更新日期：2015-01-01 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

  • Excision of the expanded GAA repeats corrects cardiomyopathy phenotypes of iPSC-derived Friedreich's ataxia cardiomyocytes.

    abstract：:Friedreich's ataxia is caused by large homozygous, intronic expansions of GAA repeats in the frataxin (FXN) gene, resulting in severe downregulation of its expression. Pathogenic repeats are located in intron one, hence patients express unaffected FXN protein, albeit in low quantities. Although FRDA symptoms typically...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2019.101529

    authors： Li J,Rozwadowska N,Clark A,Fil D,Napierala JS,Napierala M

    更新日期：2019-10-01 00:00:00

  • Pluripotent stem cell-derived interneuron progenitors mature and restore memory deficits but do not suppress seizures in the epileptic mouse brain.

    abstract：:GABAergic interneuron dysfunction has been implicated in temporal lobe epilepsy (TLE), autism, and schizophrenia. Inhibitory interneuron progenitors transplanted into the hippocampus of rodents with TLE provide varying degrees of seizure suppression. We investigated whether human embryonic stem cell (hESC)-derived int...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2018.10.007

    authors： Anderson NC,Van Zandt MA,Shrestha S,Lawrence DB,Gupta J,Chen CY,Harrsch FA,Boyi T,Dundes CE,Aaron G,Naegele JR,Grabel L

    更新日期：2018-12-01 00:00:00

  • Inhibition of ERK1/2 prevents neural and mesendodermal differentiation and promotes human embryonic stem cell self-renewal.

    abstract：:Extracellular signal-regulated kinases (ERKs) have many important functions during embryogenesis. However, their role in embryonic stem (ES) cells is controversial. Previous studies reported that, in contrast to mouse ES cells, human ES cells differentiate if ERK1/2 is inhibited. We reexamined the role of ERK1/2 in hu...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2010.06.002

    authors： Na J,Furue MK,Andrews PW

    更新日期：2010-09-01 00:00:00

  • Cholesterol-derived glucocorticoids control early fate specification in embryonic stem cells.

    abstract：:Aside from its role in cell membrane integrity, cholesterol is a key component in steroid hormone production. The vital functions of steroid hormones such as estrogen, testosterone, glucocorticoids (Gcrts) and mineralocorticoids (Mnrts) in perinatal and adult life are well understood; however, their role during early ...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2015.04.010

    authors： Cabral-Teixeira J,Martinez-Fernandez A,Cai W,Terzic A,Mercola M,Willems E

    更新日期：2015-07-01 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

  • 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

  • The CSF-1 receptor fashions the intestinal stem cell niche.

    abstract：:Gastrointestinal (GI) homeostasis requires the action of multiple pathways. There is some controversy regarding whether small intestine (SI) Paneth cells (PCs) play a central role in orchestrating crypt architecture and their relationship with Lgr5+ve stem cells. Nevertheless, we previously showed that germline CSF-1 ...

    journal_title：Stem cell research

    pub_type： 杂志文章

    doi：10.1016/j.scr.2012.12.001

    authors： Akcora D,Huynh D,Lightowler S,Germann M,Robine S,de May JR,Pollard JW,Stanley ER,Malaterre J,Ramsay RG

    更新日期：2013-03-01 00:00:00