Generation of induced pluripotent stem cells (CSSi017-A)(12862) from an ALS patient carrying a repeat expansion in the C9orf72 gene.
Stem Cell Res
; 77: 103412, 2024 Jun.
Article
em En
| MEDLINE
| ID: mdl-38613988
ABSTRACT
Genetic expansions of the hexanucleotide repeats (GGGGCC) in the C9orf72 gene appear in approximately 40% of patients with familial ALS and 7% of patients with sporadic ALS in the European population, making this mutation one of the most prevalent genetic mutations in ALS. Here, we generated a human induced pluripotent stem cell (hiPSC) line from the dermal fibroblasts of a patient carrying a 56-repeat expansion in an ALS disease-causing allele of C9orf72. These iPSCs showed stable amplification in vitro with normal karyotype and high expression of pluripotent markers and differentiated spontaneously in vivo into three germ layers.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Expansão das Repetições de DNA
/
Células-Tronco Pluripotentes Induzidas
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Proteína C9orf72
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Esclerose Lateral Amiotrófica
Limite:
Humans
/
Male
Idioma:
En
Revista:
Stem Cell Res
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Itália