Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene


A human iPSC line was generated from fibroblasts of a patient affected with autosomal dominant Retinitis Pigmentosa (RP) carrying the mutation p.Gly56Arg in the NR2E3 gene. The transgene-free iPSCs were generated with the human OSKM transcription factors using the Sendai-virus reprogramming system. iPSCs contained the expected c.166G>A substitution in exon 2 of NR2E3, expressed the expected pluripotency markers, displayed in vivo differentiation potential to the three germ layers and had normal karyotype. This cellular model will provide a powerful tool to study the pathogenesis of NR2E3-associated RP. Resource table. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Terray A, Slembrouck A, Nanteau C, Chondroyer C, Zeitz C, Sahel JA, Audo I, Reichman S, Goureau O
Journal Stem cell research
Publication Date 2017 Oct;24:1-4
PubMed 29034877
DOI 10.1016/j.scr.2017.08.003

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