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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.
AMSTERDAM
ELSEVIER
1873-5061
10.1016/j.scr.2019.101665
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