Generation of an induced pluripotent stem cell line (EURACi005-A) from a Parkinson's disease patient carrying a homozygous exon 3 deletion in the PRKNgene.
Stem Cell Res
; 41: 101624, 2019 12.
Article
en En
| MEDLINE
| ID: mdl-31715428
ABSTRACT
Mutations in the PRKN gene, encoding parkin, are the most frequent known cause of recessive Parkinson's disease (PD). We report the generation of an induced pluripotent stem cell (iPSC) line of a patient carrying a homozygous deletion of exon 3 in the PRKN gene. Skin fibroblasts were reprogrammed using non-integrating episomal plasmids. The generated cell line (EURACi005-A; iPS-2011) exhibits expression of pluripotency markers, the potential to differentiate into all three germ layers, and a stable karyotype. This iPSC line provides a valuable resource for further research on the pathomechanism and drug testing for PRKN-linked PD.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedad de Parkinson
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Línea Celular
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Exones
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Eliminación de Secuencia
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Técnicas de Cultivo de Célula
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Ubiquitina-Proteína Ligasas
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Células Madre Pluripotentes Inducidas
Límite:
Female
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Humans
Idioma:
En
Revista:
Stem Cell Res
Año:
2019
Tipo del documento:
Article