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 aut...
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Veröffentlicht in: | Stem cell research 2020-03, Vol.43, p.101665-101665, Article 101665 |
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Hauptverfasser: | , , , , , , , , |
Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | 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. |
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ISSN: | 1873-5061 1876-7753 |
DOI: | 10.1016/j.scr.2019.101665 |