Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stage.
Stem Cell Res
; 28: 145-148, 2018 04.
Article
em En
| MEDLINE
| ID: mdl-29486399
ABSTRACT
Huntington's disease (HD) is an incurable, autosomal dominant, hereditary neurodegenerative disorder that typically manifests itself in midlife. This pathology is linked to the deregulation of multiple, as yet unknown, cellular processes starting before HD onset. A human iPS cell line was generated from skin fibroblasts of a subject at the presymptomatic life stage, carrying a polyglutamine expansion in HTT gene codifying Huntingtin protein. The iPSC line contained the expected CAG expansion, expressed the expected pluripotency markers, displayed in vivo differentiation potential to the three germ layers and had a normal karyotype.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Huntington
/
Técnicas de Cultura de Células
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Células-Tronco Pluripotentes Induzidas
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
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Animals
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Humans
/
Male
Idioma:
En
Revista:
Stem Cell Res
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Itália