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


: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, ESi060B and ESi068A had the 1.5 Mb deletion of 7q11.23 and ESi069A the 1.8 Mb, with no novel additional genomic alterations, stable karyotype, expressed pluripotency markers and could differentiate towards the three germ layers in vitro via embryoid body formation and in vivo by teratoma formation. WBS patient's lines are a valuable resource for in vitro modelling of WBS.


Stem Cell Res


Stem cell research


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




Has Abstract


2020-12-01 00:00:00












  • The EBiSC iPSC bank for disease studies.

    abstract::The European Bank for induced Pluripotent Stem Cells (EBiSC), a non-profit repository for storage, banking, Quality Control (QC) and subsequent distribution of research-grade human induced Pluripotent Stem Cell (iPSC) lines, has centralised iPSC lines generated internationally across >35 disease areas and made them av...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Steeg R,Neubauer JC,Müller SC,Ebneth A,Zimmermann H

    更新日期:2020-12-01 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


    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

  • Reprogramming of rabbit induced pluripotent stem cells toward epiblast and chimeric competency using Krüppel-like factors.

    abstract::Rabbit induced pluripotent stem cells (rbiPSCs) possess the characteristic features of primed pluripotency as defined in rodents and primates. In the present study, we reprogrammed rbiPSCs using human Krüppel-like factors (KLFs) 2 and 4 and cultured them in a medium supplemented with fetal calf serum and leukemia inhi...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Tapponnier Y,Afanassieff M,Aksoy I,Aubry M,Moulin A,Medjani L,Bouchereau W,Mayère C,Osteil P,Nurse-Francis J,Oikonomakos I,Joly T,Jouneau L,Archilla C,Schmaltz-Panneau B,Peynot N,Barasc H,Pinton A,Lecardonnel J,Gocz

    更新日期:2017-10-01 00:00:00

  • Generation of three spinocerebellar ataxia type-12 patients derived induced pluripotent stem cell lines (IGIBi002-A, IGIBi003-A and IGIBi004-A).

    abstract::Spinocerebellar ataxia type-12 (SCA12) is a neurological disorder caused due to triplet (CAG) repeat expansion in 5' UTR of PPP2R2B. It is one of the most prominent SCA-subtype in Indian population and till date no patient specific models have been described. Human-induced-pluripotent-stem cell (HiPSC) based disease m...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Kumar D,Hussain A,Srivastava AK,Mukerji M,Mukherjee O,Faruq M

    更新日期:2018-08-01 00:00:00

  • Neuro-peptide treatment with Cerebrolysin improves the survival of neural stem cell grafts in an APP transgenic model of Alzheimer disease.

    abstract::Neural stem cells (NSCs) have been considered as potential therapy in Alzheimer's disease (AD) but their use is hampered by the poor survival of grafted cells. Supply of neurotrophic factors to the grafted cells has been proposed as a way to augment survival of the stem cells. In this context, we investigated the util...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Rockenstein E,Desplats P,Ubhi K,Mante M,Florio J,Adame A,Winter S,Brandstaetter H,Meier D,Masliah E

    更新日期:2015-07-01 00:00:00

  • Cell surface markers for the identification and study of human naive pluripotent stem cells.

    abstract::Characterisation of mouse pluripotent stem cells has revealed two distinct pluripotent states, naive and primed, that maintain characteristics of the pre and post implanted epiblast respectively. Recent studies have developed several culture systems that seek to recapitulate the naive phenomenon in human pluripotent s...

    journal_title:Stem cell research

    pub_type: 杂志文章,评审


    authors: Trusler O,Huang Z,Goodwin J,Laslett AL

    更新日期:2018-01-01 00:00:00

  • Generation of induced pluripotent stem cell line (ZZUi007-A) from a 52-year-old patient with a novel CHCHD2 gene mutation in Parkinson's disease.

    abstract::CHCHD2 mutation has been reported as a potential cause of a rare form of familial Parkinson's disease. Recently, a novel CHCHD2 mutation was identified in a family with Parkinson's disease. The dermal fibroblasts of the patient were obtained and successfully transformed into induced pluripotent stem cells(iPSCs), empl...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Wang Y,Wang Z,Sun H,Mao C,Yang J,Liu Y,Liu H,Zhang S,Zhang J,Xu Y,Shi C

    更新日期:2018-10-01 00:00:00

  • Hepatocyte-like cells derived from human amniotic epithelial, bone marrow, and adipose stromal cells display enhanced functionality when cultured on decellularized liver substrate.

    abstract::Transplantation of primary hepatocytes has been used in treatments for various liver pathologies and end-stage liver disease. However, shortage of donor tissue and the inability of hepatocyte proliferation in vitro have lead to alternative methods such as stem cell-derived hepatocyte-like cells (HLCs). Mesenchymal str...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Coronado RE,Somaraki-Cormier M,Ong JL,Halff GA

    更新日期:2019-07-01 00:00:00

  • Generation of KCL017 research grade human embryonic stem cell line carrying a mutation in VHL gene.

    abstract::The KCL017 human embryonic stem cell line was derived from an embryo donated for research that carried an autosomal dominant mutation affecting splicing site of the VHL gene encoding von Hippel-Lindau tumor suppressor E3 ubiquitin protein ligase (676+3A>T). The ICM was isolated using laser microsurgery and plated on γ...

    journal_title:Stem cell research

    pub_type: 杂志文章


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

    更新日期:2016-03-01 00:00:00

  • Transcriptional regulation of TRKC by SOX2 in human embryonic stem cells.

    abstract::Human embryonic stem (hES) cells have the dual ability to self-renew and differentiate into specialized cell types. However, in order to realize the full potential of these cells it is important to understand how the genes responsible for their unique characteristics are regulated. In this study we examine the regulat...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Fong H,Wong RC,Donovan PJ

    更新日期:2012-03-01 00:00:00

  • 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


    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

  • Differential regulation of genomic imprinting by TET proteins in embryonic stem cells.

    abstract::TET proteins have been found to play an important role in active demethylation at CpG sites in mammals. There are some reports implicating their functions in removal of DNA methylation imprint at the imprinted regions in the germline. However, it is not well established whether TET proteins can also be involved in dem...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Liu L,Mao SQ,Ray C,Zhang Y,Bell FT,Ng SF,Xu GL,Li X

    更新日期:2015-09-01 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


    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

  • Establishment of induced pluripotent stem cell line (GSPHi001-A) from a 6-year old female with nephrotic syndrome.

    abstract::Peripheral blood mononuclear cells (PBMCs) were collected from a 6-year-old female child who was clinically diagnosed as primary nephrotic syndrome (NS) with hormone resistance. An iPSC line was successfully established by the Sendai-virus (SeV) delivery system. The iPS-19 (GSPHi001-A) expressed pluripotent markers, e...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Gao X,Gao X,Zhao H,Cui W,Tan M,Deng H

    更新日期:2019-12-01 00:00:00

  • One-step generation of murine embryonic stem cell-derived mesoderm progenitors and chondrocytes in a serum-free monolayer differentiation system.

    abstract::Cartilage defects have limited capacity for repair and are often replaced by fibrocartilage with inferior mechanical properties. To overcome the limitations of artificial joint replacement, high-throughput screens (HTS) could be developed to identify molecules that stimulate differentiation and/or proliferation of art...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Waese EY,Stanford WL

    更新日期:2011-01-01 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


    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

  • Establishment of induced pluripotent stem cell line CSUASOi003- A from an autosomal recessive retinitis pigmentosa patient carrying compound heterozygous mutations in CRB1 gene.

    abstract::Crumbs homologue 1 (CRB1) mutations have been found in retinitis pigmentosa (RP) patients lead to severe retinal dystrophies. The human induced pluripotent stem (iPS) cell line CSUASOi003-A derived from peripheral blood mononuclear cells (PBMCs) of a patient carrying two heterozygous mutations (2249G>A p.G750D and c.2...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Zhou Y,Ding C,Xia S,Jing Y,Mao S,Liu J,Chen J,Chan HF,Tang S,Chen J

    更新日期:2020-04-01 00:00:00

  • HIF1α is a regulator of hematopoietic progenitor and stem cell development in hypoxic sites of the mouse embryo.

    abstract::Hypoxia affects many physiologic processes during early stages of mammalian ontogeny, particularly placental and vascular development. In the adult, the hypoxic bone marrow microenvironment plays a role in regulating hematopoietic stem cell (HSC) function. HSCs are generated from the major vasculature of the embryo, b...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Imanirad P,Solaimani Kartalaei P,Crisan M,Vink C,Yamada-Inagawa T,de Pater E,Kurek D,Kaimakis P,van der Linden R,Speck N,Dzierzak E

    更新日期:2014-01-01 00:00:00

  • Derivation of the clinical grade human embryonic stem cell line RCe019-A (RC-15).

    abstract::The human embryonic stem cell line RCe019-A (RC-15) was derived under quality assured compliance with UK regulation, European Union Directives and International guidance for tissue procurement, processing and storage according to Good Manufacturing Practice (GMP) standards. The cell line was derived from a cleavage st...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: De Sousa PA,Tye BJ,Bruce K,Dand P,Russell G,Collins DM,Greenshields A,McDonald K,Bradburn H,Laurie A,Downie JM,Bateman M,Courtney A

    更新日期:2016-05-01 00:00:00

  • Generation of hiPSC line TCIERi001-A from normal human epidermal keratinocytes.

    abstract::Human induced pluripotent stem cell (hiPSC) line TCIERi001-A was generated from normal human epidermal keratinocytes (NHEK) primary cell line with the nonintegrating system using Sendai reprogramming kit. Sendai particles were used to deliver the defined transcription factors that included three vector preparations, s...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Shrestha R,Wen YT,Tsai RK

    更新日期:2019-12-01 00:00:00

  • Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of mutation in SACSIN gene.

    abstract::The human iPSC cell line, CARS-FiPS4F1 (ESi064-A), derived from dermal fibroblast from the apparently healthy carrier of the mutation of the gene SACSIN, was generated by non-integrative reprogramming technology using OCT3/4, SOX2, CMYC and KLF4 reprogramming factors. The pluripotency was assessed by immunocytochemist...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Machuca C,Vilches A,Clemente E,Pascual-Pascual SI,Bolinches-Amorós A,Artero Castro A,Espinos C,Leon M,Jendelova P,Erceg S

    更新日期:2018-12-01 00:00:00

  • Derivation of hybrid ES cell lines from two different strains of mice.

    abstract::Parental origin-dependent expression of the imprinted genes is essential for mammalian development. Zfp57 maintains genomic imprinting in mouse embryos and ES cells. To examine the allelic expression patterns of the imprinted genes in ES cells, we obtained multiple hybrid ES clones that were directly derived from the ...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Lau HT,Liu L,Ray C,Bell FT,Li X

    更新日期:2016-03-01 00:00:00

  • Generation of an integration-free induced pluripotent stem cell line (CSC-43) from a patient with sporadic Parkinson's disease.

    abstract::An induced pluripotent stem cell (iPSC) line was generated from a 36-year-old patient with sporadic Parkinson's disease (PD). Skin fibroblasts were reprogrammed using the non-integrating Sendai virus technology to deliver OCT3/4, SOX2, c-MYC and KLF4 factors. The generated cell line (CSC-43) exhibits expression of com...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Marote A,Pomeshchik Y,Goldwurm S,Collin A,Lamas NJ,Pinto L,Salgado AJ,Roybon L

    更新日期:2018-03-01 00:00:00

  • Generation of four postmortem dura-derived iPS cell lines from four control individuals with genotypic and brain-region-specific transcriptomic data available through the BrainSEQ consortium.

    abstract::In this study, we established induced pluripotent stem (iPS) cell lines from postmortem dura-derived fibroblasts of four control individuals with low polygenic risk score for psychiatric disorders including schizophrenia and bipolar disorder. The fibroblasts were reprogrammed into iPS cells using episomal vectors carr...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Sawada T,Benjamin KJM,Brandtjen AC,Tietze E,Allen SJ,Paquola ACM,Kleinman JE,Hyde TM,Erwin JA

    更新日期:2020-07-01 00:00:00

  • Generation of a human control iPSC line with a European mitochondrial haplogroup U background.

    abstract::Human iPSC line N44SV.5 was generated from primary normal human dermal fibroblasts belonging to the European mitochondrial haplogroup U. For this purpose, reprogramming factors Oct3/4, Sox2, Klf4, and cMyc were delivered using a non-integrative methodology that involves the use of Sendai virus. ...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Galera T,Zurita F,González-Páramos C,Moreno-Izquierdo A,Fraga MF,Fernández AF,Garesse R,Gallardo ME

    更新日期:2016-01-01 00:00:00

  • Generation of GADD45A gene knockout human embryonic stem cell line using CRISPR/Cas9.

    abstract::GADD45A is a DNA damage and stressful growth arrest inducible protein, also it is shown to a be tumor suppressor gene and a chromatin relaxer associated with opening chromatin during the somatic reprogramming. However, its role in human embryonic stem cells and human embryonic stem cell modeled development has been me...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Li J,Li Y,Zhan XY,Ran X,Tse HF,Dang S,Nie Y,Huang K

    更新日期:2020-12-01 00:00:00

  • Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation.

    abstract::SLC26A4 is the second most frequent gene implicated in congenital hearing loss after GJB2 mutations. Here, we report the generation of induced pluripotent stem cells (iPSCs), from a patient who was carrying a homozygous c.919-2A>G variant in the SLC26A4 gene. This is the most common variant of SLC26A4 gene in the Chin...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Cheng YF,Chan YH,Hu CJ,Lu YC,Saeki T,Hosoya M,Saegusa C,Fujioka M,Okano H,Weng SM,Hsu CJ,Chang KH,Wu CC

    更新日期:2019-10-01 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


    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

  • CD71(high) population represents primitive erythroblasts derived from mouse embryonic stem cells.

    abstract::The CD71/Ter119 combination has been widely used to reflect dynamic maturation of erythrocytes in vivo. However, because CD71 is expressed on all proliferating cells, it is unclear whether it can be utilized as an erythrocyte-specific marker during differentiation of embryonic stem cells (ESCs). In this study, we reve...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Chao R,Gong X,Wang L,Wang P,Wang Y

    更新日期:2015-01-01 00:00:00

  • Chemical screen for epigenetic barriers to single allele activation of Oct4.

    abstract::Here we utilized the chromatin in vivo assay (CiA) mouse platform to directly examine the epigenetic barriers impeding the activation of the CiA:Oct4 allele in mouse embryonic fibroblasts (MEF)s when stimulated with a transcription factor. The CiA:Oct4 allele contains an engineered EGFP reporter replacing one copy of ...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Headley KM,Kedziora KM,Alejo A,Lai EZ,Purvis JE,Hathaway NA

    更新日期:2019-07-01 00:00:00