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Mandatory Fields
Editorial
Ding, YC,Carvalho, E,Murphy, C,McInerney, V,Krawczyk, J,O'Brien, T,Howard, L,Cai, L,Shen, SB
2020
March
Derivation of familial iPSC lines from three patients with retinitis pigmentosa carrying an autosomal dominant RPE65 mutation (NUIGi027-A, NUIGi028-A, NUIGi029-A)
Published
1
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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.
10.1016/j.scr.2019.101665
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