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 table Unique stem cell line identifier FRIMOi001-A Alternative name(s) of stem cell line RP1_FiPS4F1.6 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 line iPSC Origin Human Additional origin info Age: 51 Sex: Male Ethnicity: Caucasian Cell Source Dermal fibroblasts Clonality Clonal Method of reprogramming Sendai virus Genetic Modification Yes Type of Modification Hereditary Associated disease Retinitis pigmentosa Gene/locus PDE6A on chromosome 5q32 Mutations: c.305G > A (p.Arg102His) and c.1268delT (p.Leu423Ter) 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 Patient informed consent was obtained Ethics approval was received from the Ethics Committee of Institut de Microcirurgia Ocular (170505_117)