Generation of a human iPSC line, INMi004-A, with a point mutation in CRX associated with autosomal dominant Leber congenital amaurosis.
Stem Cell Res
; 38: 101476, 2019 07.
Article
en En
| MEDLINE
| ID: mdl-31247521
ABSTRACT
The human induced pluripotent stem cell (iPSC) line, INMi004-A, was generated using dermal fibroblasts from a 6â¯year-old patient with autosomal dominant Leber Congenital Amaurosis (LCA) caused by the point mutation c.695delC (p.Pro232Argfs*139) in the CRX gene. We used non-integrative Sendai virus vectors containing the human OSKM transcription factor cocktail to reprogram patient fibroblasts. The generated iPSC line contained the congenital deletion c.695delC in exon 4 of CRX, had a normal karyotype, and was capable of differentiation into all three germ layers. This cell line represents an important tool to study the pathophysiology of CRX-associated LCA.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Secuencia de Bases
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Transactivadores
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Eliminación de Secuencia
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Mutación Puntual
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Proteínas de Homeodominio
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Células Madre Pluripotentes Inducidas
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Amaurosis Congénita de Leber
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Fibroblastos
Tipo de estudio:
Risk_factors_studies
Límite:
Humans
Idioma:
En
Año:
2019
Tipo del documento:
Article