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

Stem cell research - 1 Mar 2020

Ding Yicheng, Carvalho Eva, Murphy Cormac, McInerney Veronica, Krawczyk Janusz, O'Brien Timothy, Howard Linda, Cai Li, Shen Sanbing

Abstract excerpt

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...

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PMID: 31954326
DOI: 10.1016/j.scr.2019.101665

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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