Derivation of familial iPSC lines from three patients with retinitis pigmentosa carrying an autosomal dominant RPE65 mutation (NUIGi027-A, NUIGi028-A, NUIGi029-A)


Retinitis Pigmentosa (RP) is an inherited disorder of retinal degeneration with progressive loss of rod and cone photoreceptors. RPE65 is a gene encoding the trans-cis isomerase which is essential for the classical visual cycle. While most RPE65 mutations associated with RP have been reported as autosome, an Irish c.1430A > G (p.D477G) mutation is the first case reported to cause dominantly inherited RP. In this study, we used the non-integrational Sendai virus to generate induced pluripotent stem cell (iPSC) lines carrying the c.1430A > G (p.D477G) mutation from three familial RP patients. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Ding Y, Carvalho E, Murphy C, McInerney V, Krawczyk J, O'Brien T, Howard L, Cai L, Shen S
Journal Stem cell research
Publication Date 2020 Mar;43:101665
PubMed 31954326
DOI 10.1016/j.scr.2019.101665

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