Generation of an induced pluripotent stem cell line (FRIMOi002-A) from a retinitis pigmentosa patient carrying compound heterozygous mutations in USH2A gene


A human induced pluripotent stem cell (iPSC) line was generated from a female patient affected by autosomal recessive retinitis pigmentosa with two mutations in the USH2A gene: c.2209C > T (p.Arg737Ter) and c.8693A > C (p.Tyr2898Ser). Skin fibroblasts were infected with Sendai virus containing the Yamanaka factors and the resulting cells were fully characterized to confirm successful reprogramming. The iPSC line expressed several pluripotency markers, could generate the three germ layers, had a normal karyotype, carried the two USH2A mutations and was free of Sendai virus. This cell line will serve as a model to unravel the pathogenic mechanisms underlying USH2A-associated retinal degeneration. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Riera M, Patel A, Corcostegui B, Chang S, Corneo B, Sparrow JR, Pomares E
Journal Stem cell research
Publication Date 2019 Mar;35:101386
PubMed 30685615
DOI 10.1016/j.scr.2019.101386

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