Generation of five induced pluripotent stem cells lines from four members of the same family carrying a C9orf72 repeat expansion and one wild-type member.
Stem Cell Res
; 66: 102998, 2023 02.
Article
em En
| MEDLINE
| ID: mdl-36528014
ABSTRACT
The most common genetic cause of Amyotrophic Lateral Sclerosis (ALS) is the expansion of a G4C2 hexanucleotide repeat in the C9orf72 gene. The size of the repeat expansion is highly variable and a cut-off of 30 repeats has been suggested as the lower pathological limit. Repeat size variability has been observed intergenerationally and intraindividually in tissues from different organs and within the same tissue, suggesting instability of the pathological repeat expansion. In order to study this genomic instability, we established iPSCs from five members of the same family of which four carried a C9orf72 repeat expansion and one was wild-type.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Células-Tronco Pluripotentes Induzidas
/
Demência Frontotemporal
/
Esclerose Lateral Amiotrófica
Limite:
Humans
Idioma:
En
Revista:
Stem Cell Res
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Itália