Generation of an induced pluripotent stem cell (iPSC) line from a Parkinson's disease patient with a pathogenic LRP10/c.688C > T(p.Arg230Trp) mutation.
Stem Cell Res
; 77: 103359, 2024 Jun.
Article
en En
| MEDLINE
| ID: mdl-38460235
ABSTRACT
Parkinson's disease (PD) is a highly prevalent and severe neurodegenerative disease that affects more than 10 million individuals worldwide. Pathogenic mutations in LRP10 have been associated with autosomal dominant PD. Here, we report an induced pluripotent stem cell (iPSC) line generated from a PD patient harboring the LRP10 c.688C > T (p.Arg230Trp) variant. Skin fibroblasts from the PD patient were successfully reprogrammed into iPSCs that expressed pluripotency markers, a normal karyotype, and the capacity to differentiate into the three germ layers in vivo. This iPSC line is a potential resource for studying the pathogenic mechanisms of PD.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Enfermedad de Parkinson
/
Células Madre Pluripotentes Inducidas
/
Mutación
Límite:
Humans
/
Male
Idioma:
En
Revista:
Stem Cell Res
Año:
2024
Tipo del documento:
Article
País de afiliación:
China