Generation of the human induced pluripotent stem cell line (UKWNLi001-A) from skin fibroblasts of a woman with Fabry disease carrying the X-chromosomal heterozygous c.708 G > C (W236C) missense mutation in exon 5 of the alpha-galactosidase–A gene
2018; Elsevier BV; Volume: 31; Linguagem: Inglês
10.1016/j.scr.2018.08.009
ISSN1876-7753
AutoresThomas Klein, Katharina Günther, Chee Keong Kwok, Frank Edenhofer, Nurcan Üçeyler,
Tópico(s)Carbohydrate Chemistry and Synthesis
ResumoHuman dermal fibroblasts (HDF) were isolated from the skin punch biopsy of a 25-year-old woman with Fabry disease (FD), carrying a heterozygous c.708 G > C missense mutation in the alpha-galactosidase A gene. HDF were reprogrammed to induced pluripotent stem cells (iPSC) using synthetic mRNA, preventing the alteration of the genome and retaining the original genotype. FD-W236C-iPSC (UKWNLi001-A) showed typical human embryonic stem cell (hESC)-like morphology, expressed all analyzed pluripotency-associated markers, could be differentiated into cells from all three germ layers, and demonstrated a normal female karyotype. We provide a novel patient-specific cell line, allowing further insights into the pathophysiology of FD. Resource table.Unique stem cell line identifierUKWNLi001-AAlternative name(s) of stem cell lineFD-W236C-iPSCInstitutionDepartment of Neurology, University of Würzburg, GermanyContact information of distributorNurcan Üçeyler, [email protected]Type of cell lineiPSCOriginHumanAdditional origin infoAge: 25Sex: femaleEthnicity: caucasianCell SourceDermal fibroblastsClonalityClonalMethod of reprogrammingmRNA reprogrammingGenetic ModificationN/AType of ModificationN/AAssociated diseaseFabry disease (FD)Gene/locusAlpha-galactosidase A (GLA); Xq22.1c.708 G > CMethod of modificationN/AName of transgene or resistanceN/AInducible/constitutive systemN/ADate archived/stock date05/2017Cell line repository/bankN/AEthical approvalEthics Committee of the University of Würzburg Medical Faculty (#135/15)
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