Generation of a human induced pluripotent stem cell line JHUi004-A with heterozygous mutation for spinocerebellar ataxia type 12 using genome editing.
Stem Cell Res
; 77: 103441, 2024 Jun.
Article
em En
| MEDLINE
| ID: mdl-38759410
ABSTRACT
Spinocerebellar ataxia type 12 (SCA12) is caused by a CAG expansion mutation in PPP2R2B, a gene encoding brain-specific regulatory units of protein phosphatase 2A (PP2A); while normal alleles carry 4 to 31 triplets, the disease alleles carry 43 to 78 triplets. Here, by CRISPR/Cas9n genome editing, we have generated a human heterozygous SCA12 iPSC line with 73 triplets for the mutant allele. The heterozygous SCA12 iPSCs have normal karyotype, express pluripotency markers and are able to differentiate into the three germ layers.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ataxias Espinocerebelares
/
Células-Tronco Pluripotentes Induzidas
/
Edição de Genes
/
Heterozigoto
/
Mutação
Limite:
Humans
Idioma:
En
Revista:
Stem Cell Res
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Estados Unidos