Establishment and characterization of an iPSC line (FRIMOi001-A) derived from a retinitis pigmentosa patient carrying PDE6A mutations

Abstract

Retinitis pigmentosa (RP) refers to a clinical and genetic heterogeneous group of inherited retinal degenerations characterized by photoreceptor cell death. In this work, we have generated an induced pluripotent stem cell (iPSC) line derived from a RP patient with two heterozygous mutations in the cGMP-specific phosphodiesterase 6A alpha subunit (PDE6A) gene. Skin fibroblasts were generated and reprogrammed by using a Sendai virus-based approach. The iPSC line had a normal karyotype, carried the two PDE6A mutations, expressed pluripotency markers and could generate endoderm, mesoderm and ectoderm in vitro.Resource tableUnlabelled TableUnique stem cell line identifierFRIMOi001-AAlternative name(s) of stem cell lineRP1_FiPS4F1.6InstitutionFundació de Recerca de l'Institut de Microcirurgia Ocular, Barcelona, SpainContact information of distributorMarina Riera, [email protected] Pomares, [email protected] of cell lineiPSCOriginHumanAdditional origin infoAge: 51Sex: MaleEthnicity: CaucasianCell SourceDermal fibroblastsClonalityClonalMethod of reprogrammingSendai virusGenetic ModificationYesType of ModificationHereditaryAssociated diseaseRetinitis pigmentosaGene/locusPDE6A on chromosome 5q32Mutations: c.305G > A (p.Arg102His) and c.1268delT (p.Leu423Ter)Method of modificationN/AName of transgene or resistanceN/AInducible/constitutive systemN/ADate archived/stock dateNovember 2018Cell 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 approvalPatient informed consent was obtainedEthics approval was received from the Ethics Committee of Institut de Microcirurgia Ocular (170505_117)