Generation of two iPS cell lines (FRIMOi003-A and FRIMOi004-A) derived from Stargardt patients carrying ABCA4 compound heterozygous mutations

Abstract

Recessive Stargardt disease (STGD1) is an autosomal recessive retinal dystrophy, caused by mutations in the retina-specific ATP-binding cassette transporter (ABCA4) gene, which plays a role as a retinaldehyde flippase in the photoreceptor outer segments. In this work, two human induced pluripotent stem cell (iPSC) lines were generated from STGD1 patients carrying compound heterozygous mutations in ABCA4. Skin fibroblasts were reprogrammed with the Yamanaka factors using a non-integrating, Sendai virus-based approach. Both iPSC lines displayed typical embryonic stem cell morphology, had normal karyotype, expressed several pluripotency markers and were able to differentiate into all three germ layers.Resource tableUnlabelled TableUnique stem cell lines identifierFRIMOi003-A, FRIMOi004-AAlternative names of stem cell linesSTGD1_FiPS4F1.5, STGD2_FiPS4F1.7InstitutionFundació de Recerca de l'Institut de Microcirurgia Ocular, Barcelona, SpainContact information of distributorMarina Riera, [email protected] Pomares, [email protected] of cell linesiPSCOriginHumanCell SourceDermal fibroblastsClonalityClonalMethod of reprogrammingSendai virusMultiline rationaleSame disease non-isogenic cell linesGene modificationYesType of modificationHereditaryAssociated diseaseStargardt diseaseGene/locusABCA4 on chromosome 1p22.1Method 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 approvalPatients informed consent was obtainedEthics approval was received from the Ethics Committee of Institut de Microcirurgia Ocular (170505_117)