Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa


We generated an induced pluripotent stem cell (iPSC) line from a patient with non-syndromic retinitis pigmentosa who is a compound heterozygote for the two most frequent USH2A variants, c.2276G > T and c.2299delG localized in exon 13. Patient fibroblasts were reprogrammed using the non-integrative Sendai virus reprogramming method and the human OSKM transcription factor cocktail. The generated cells were pluripotent and genetically stable. This iPSC line will be an important tool for studying the pathogenesis of these USH2A mutations and for developing treatments that, due their high prevalence, will target a large patient population. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Sanjurjo-Soriano C, Erkilic N, Manes G, Dubois G, Hamel CP, Meunier I, Kalatzis V
Journal Stem cell research
Publication Date 2018 Dec;33:228-232
PubMed 30453153
DOI 10.1016/j.scr.2018.11.004

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