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 Res
; 43: 101665, 2020 03.
Article
en En
| MEDLINE
| ID: mdl-31954326
ABSTRACT
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Retinitis Pigmentosa
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Cis-trans-Isomerasas
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Células Madre Pluripotentes Inducidas
Límite:
Animals
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Female
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Humans
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Male
Idioma:
En
Revista:
Stem Cell Res
Año:
2020
Tipo del documento:
Article
País de afiliación:
Irlanda