Establishment of an induced pluripotent stem cell line (FRIMOi005-A) derived from a retinitis pigmentosa patient carrying a dominant mutation in RHO gene.
Stem Cell Res
; 38: 101468, 2019 07.
Article
em En
| MEDLINE
| ID: mdl-31146251
ABSTRACT
Retinitis pigmentosa (RP) is an inherited retinal dystrophy characterized by the progressive degeneration of photoreceptors. In the present study, we have generated an induced pluripotent stem cell (iPSC) line derived from a RP patient with a dominant mutation in the RHO gene, responsible for the synthesis of rhodopsin. The reprogramming of these iPSCs was performed from skin fibroblasts by the Sendai-virus based approach. Characterization of the iPSC line showed a normal karyotype carrying the RHO mutation, expressed pluripotency markers and could be differentiated to endoderm, mesoderm and ectoderm in vitro.
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Base de dados:
MEDLINE
Assunto principal:
Retinose Pigmentar
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Mutação Puntual
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Rodopsinas Sensoriais
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Células-Tronco Pluripotentes Induzidas
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Genes Dominantes
Limite:
Adult
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Female
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Humans
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article