Generation of two induced pluripotent stem cell lines from a patient with dominant PRPF31 mutation and a related non-penetrant carrier

Abstract

We report the generation of the human iPSC line LEIi008-A from a patient with retinitis pigmentosa-11 caused by a dominant nonsense mutation in the PRPF31 gene (NM_015629.3:c.1205C > A p.(Ser402Ter)). A second line, LEIi009-A, was generated from a related non-penetrant carrier of the same mutation with no retinal disease. Reprogramming of patient dermal fibroblasts using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, shRNA for p53 and mir302/367 microRNA generated cell lines displaying pluripotent stem cell marker expression, a normal karyotype and the capability to differentiate into the three germ layer lineages.Resource tableUnlabelled TableUnique stem cell lines identifierLEIi008-ALEIi009-AAlternative names of stem cell lines1093ips4 (LEIi008-A)1374ips1 (LEIi009-A)InstitutionLions Eye Institute, Nedlands, Western Australia, AustraliaContact information of distributorSamuel McLenachan: [email protected] Chen: [email protected] of cell linesiPSCOriginHumanCell SourceDermal fibroblastsClonalityClonalMethod of reprogrammingEpisomalMultiline rationaleUnaffected mother and affected son carrying same dominant PRPF31 mutationGene modificationYesType of modificationHereditaryAssociated diseaseRetinitis Pigmentosa 11Gene/locusPRPF31/19q13.42Method of modificationN/AName of transgene or resistanceN/AInducible/constitutive systemN/ADate archived/stock dateLEIi008-A: 18/12/17; LEIi009-A: 17/11/17Cell line repository/bankhttps://hpscreg.eu/cell-line/LEIi008-Ahttps://hpscreg.eu/cell-line/LEIi009-AEthical approvalHuman Research Ethics Office, University of Western Australia (RA/4/1/7916)