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

Publication date: Available online 5 October 2018Source: Stem Cell ResearchAuthor(s): Dunja Lukovic, Ana Artero Castro, Marian León, Verónica del Buey Furió, Marta Cortón, Carmen Ayuso, Slaven ErcegAbstractThe 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.Unique 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 Type 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 lin...
Source: Stem Cell Research - Category: Stem Cells Source Type: research