Generation of a human induced pluripotent stem cell line JHUi004-A with heterozygous mutation for spinocerebellar ataxia type 12 using genome editing

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, w...

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Detalhes bibliográficos

Principais autores:	Hans B. Liu, Tao Dong, Leon Deng, Chengqian Zhou, Fan Tang, Russell L. Margolis, Pan P. Li
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Elsevier 2024-06-01
coleção:	Stem Cell Research
Acesso em linha:	http://www.sciencedirect.com/science/article/pii/S1873506124001399
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