Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated with RDH12 variants


Induced pluripotent stem cell (iPSC) lines were generated from two patients with RDH12 variants. UCLi014-A is from a patient with heterozygous frameshift mutation c.759del p.(Phe254Leufs*24), associated with autosomal dominant retinitis pigmentosa. UCLi015-A is from a patient with homozygous missense mutation c.619A > G p.(Asn207Asp), associated with Leber congenital amaurosis. Fibroblasts were derived from skin biopsies and reprogrammed using integration free episomal reprogramming plasmids. The iPSC lines expressed pluripotency markers, exhibited differentiation potential in vitro and displayed normal karyotypes. These cell lines will act as a tool for disease modelling, enabling comparison of disease mechanisms, identification of therapeutic targets and drug screening. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Sarkar H, Méjécase C, Harding P, Eintracht J, Toualbi L, Cunha DL, Moosajee M
Journal Stem cell research
Publication Date 2021 Jul;54:102449
PubMed 34216980
PubMed Central PMC8363920
DOI 10.1016/j.scr.2021.102449

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