Generation of a human iPSC line, INMi004-A, with a point mutation in CRX associated with autosomal dominant Leber congenital amaurosis


The human induced pluripotent stem cell (iPSC) line, INMi004-A, was generated using dermal fibroblasts from a 6 year-old patient with autosomal dominant Leber Congenital Amaurosis (LCA) caused by the point mutation c.695delC (p.Pro232Argfs*139) in the CRX gene. We used non-integrative Sendai virus vectors containing the human OSKM transcription factor cocktail to reprogram patient fibroblasts. The generated iPSC line contained the congenital deletion c.695delC in exon 4 of CRX, had a normal karyotype, and was capable of differentiation into all three germ layers. This cell line represents an important tool to study the pathophysiology of CRX-associated LCA. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Erkilic N, Sanjurjo-Soriano C, Manes G, Dubois G, Hamel CP, Meunier I, Kalatzis V
Journal Stem cell research
Publication Date 2019 Jul;38:101476
PubMed 31247521
DOI 10.1016/j.scr.2019.101476

Research Projects

Cell Lines