Generation of a human iPSC line from a patient with Leber congenital amaurosis caused by mutation in AIPL1

Abstract

The human induced pluripotent stem cell (hiPSC) line, derived from dermal fibroblasts from Leber congenital amaurosis patient with homozygous mutation c.265 T > C, p.Cys89Arg in aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) was generated by Sendai virus reprogramming. The generated hiPSC line was free of Sendai virus genes, had stable karyotype, carried the homozygous mutation, was immunopositive to pluripotency markers and able to generate all three germ layers upon embryoid body formation.Resource table.Unlabelled TableUnique stem cell line identifierCIPFi001-AAlternative name(s) of stem cell lineLCA –FiPS4F1InstitutionResearch Center Principe Felipe, Eduardo Primo Yufera 3, Valencia, SpainContact information of distributorDunja Lukovic [email protected] of cell lineiPSCOriginHumanAdditional origin infoAge:31Sex: FemaleEthnicity if known: CaucasianCell SourceDermal fibroblastsClonalityClonalMethod of reprogrammingSendai virusGenetic modificationN/AType of modificationN/AAssociated diseaseLeber congenital amaurosisGene/locusAIPL1 (NM_014336.3), Chr17: g.6337250A > G (hg19); Ex.2 c.[265 T > C];[265 T > C], p.[Cys89Arg];[Cys89Arg]Method of modificationN/AName of transgene or resistanceN/AInducible/constitutive systemN/ADate archived/stock dateApril 2017Cell line repository/bankhttp://www.isciii.es/ISCIII/es/contenidos/fd-el-instituto/fd-organizacion/fd-estructura-directiva/fd-subdireccion-general-investigacion-terapia-celular-medicina-regenerativa/fd-centros-unidades/fd-banco-nacional-lineas-celulares/fd-lineas-celulares-disponibles/lineas-de-celulas-iPS.shtmlEthical approvalEthics Review Board-competent authority approval obtained by the Valencian Authority for Stem Cell Research (Approval number: S:177–15)