Generation and heterozygous repair of human iPSC lines from three individuals with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) carrying biallelic AAGGG expansions in RFC1.
Stem Cell Res
; 68: 103047, 2023 04.
Article
em En
| MEDLINE
| ID: mdl-36805468
ABSTRACT
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is a progressive neurodegenerative disorder predominantly caused by biallelic AAGGG expansions in the second intron of the RFC1 gene. Here, we used a simultaneous reprogramming and CRISPR-Cas9 genome editing approach to generate three patient iPSC lines with homozygous AAGGG expansions along with three heterozygous gene corrected iPSC lines. The iPSC lines expressed pluripotency markers, had a normal karyotype, and were able to differentiate into all three embryonic germ layers. These mutant and corrected iPSC lines will be a valuable tool for studying the molecular mechanisms underlying CANVAS.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ataxia Cerebelar
/
Doenças do Sistema Nervoso Periférico
/
Células-Tronco Pluripotentes Induzidas
/
Vestibulopatia Bilateral
Limite:
Humans
Idioma:
En
Revista:
Stem Cell Res
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Austrália