Generation of induced pluripotent stem cells (iPSCs) from a microvillus inclusion disease patient with a homozygous missense mutation in UNC45A.
Stem Cell Res
; 68: 103057, 2023 04.
Article
en En
| MEDLINE
| ID: mdl-36868038
ABSTRACT
Mutations in UNC45A, a co-chaperone for myosins, were recently found causative of a syndrome combining cholestasis, diarrhea, loss of hearing and bone fragility. We generated induced pluripotent stem cells (iPSCs) from a patient with a homozygous missense mutation in UNC45A. Cells from this patient, which were reprogrammed using integration-free Sendaï virus, have normal karyotype, express pluripotency markers and are able to differentiate into the three germ cell layers.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Células Madre Pluripotentes Inducidas
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Síndromes de Malabsorción
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Mucolipidosis
Límite:
Humans
Idioma:
En
Revista:
Stem Cell Res
Año:
2023
Tipo del documento:
Article
País de afiliación:
Francia