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

Publication date: Available online 13 February 2019Source: Stem Cell ResearchAuthor(s): Marina Riera, Achchhe Patel, Anniken Burés-Jelstrup, Borja Corcostegui, Stanley Chang, Esther Pomares, Barbara Corneo, Janet R. SparrowAbstractRecessive 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 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, Esther Pomares, Type of cell linesiPSCOriginHumanCell SourceDermal fibroblastsClonalityClonalMethod of reprogrammingSendai virusMultiline rationaleSame disease non-isogenic cell linesGene modificationYesType of modificationHereditaryAssociated diseaseStargardt diseaseGene/locus on chro...
Source: Stem Cell Research - Category: Stem Cells Source Type: research