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 table Unique stem cell lines identifier FRIMOi003-A, FRIMOi004-A Alternative names of stem cell lines STGD1_FiPS4F1.5, STGD2_FiPS4F1.7 Institution Fundacio de Recerca de l'Institut de Microcirurgia Ocular, Barcelona, Spain Contact information of distributor Marina Riera, genetica.riera@imo.es Esther Pomares, pomares@imo.es Type of cell lines iPSC Origin Human Cell Source Dermal fibroblasts Clonality Clonal Method of reprogramming Sendai virus Multiline rationale Same disease non-isogenic cell lines Gene modification Yes Type of modification Hereditary Associated disease Stargardt disease Gene/locus ABCA4 on chromosome 1p22.1 Method of modification N/A Name of transgene or resistance N/A Inducible/constitutive system N/A Date archived/stock date November 2018 Cell line repository/bank http://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.shtml Ethical approval Patients informed consent was obtained Ethics approval was received from the Ethics Committee of Institut de Microcirurgia Ocular (170505_117)