Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene

A human iPSC line was generated from fibroblasts of a patient affected with autosomal dominant Retinitis Pigmentosa (RP) carrying the mutation p.Gly56Arg in the NR2E3 gene. The transgene-free iPSCs were generated with the human OSKM transcription factors using the Sendai-virus reprogramming system. iPSCs contained the expected c.166G>A substitution in exon 2 of NR2E3, expressed the expected pluripotency markers, displayed in vivo differentiation potential to the three germ layers and had normal karyotype. This cellular model will provide a powerful tool to study the pathogenesis of NR2E3-associated RP.Resource table.Unique stem cell line identifierIDVi001-AAlternative name(s) of stem cell lineNR2E3-86-iPSInstitutionInstitut de la VisionContact information of distributorOlivier Goureau, olivier.goureau@inserm.frType of cell lineiPSCOriginHumanAdditional origin infoAge: 49-year oldSex: femaleCell SourceDermal fibroblastsMethod of reprogrammingTransgene free (Sendai Virus)Associated diseaseRetinitis Pigmentosa (RP)Gene/locusNR2E3 (c.166G>A; p.Gly56Arg)Method of modificationN/AGene correctionNOName of transgene of resistanceN/AInducible/constitutive systemN/ADate archived/stock dateDec. 22, 2016Cell line repository/bankNot applicableEthical approvalApproval by French regulatory agencies: CPP Ile de France (2012-A01333-40; P12-02) and the ANSM (B121362-32)Full-size tableTable optionsView in workspaceDownload as CSV