Generation of a human induced pluripotent stem cell line JHUi003-A with homozygous mutation for spinocerebellar ataxia type 12 using genome editing

被引：1

作者：

Feng, Hongxuan ^{[1
]}

Li, Qinshan ^{[1
]}

Margolis, Russell L. ^{[1
,2
]}

Li, Pan P. ^{[1
]}

机构：

[1] Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Div Neurobiol, 600 N Wolfe St, Baltimore, MD 21287 USA

[2] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA

来源：

STEM CELL RESEARCH | 2021年 / 53卷

关键词：

D O I：

10.1016/j.scr.2021.102346

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

Spinocerebellar ataxia type 12 (SCA12) is caused by a CAG expansion mutation in PPP2R2B, a gene encoding a brain-specific regulatory unit of protein phosphatase 2A (PP2A); while normal alleles carry 4 to 31 triplets, the disease alleles carry 43 to 78 triplets. Here, by CRISPR/Cas9 genome editing, we have generated a human homozygous SCA12 iPSC line with 69 and 72 triplets for each allele. The homozygous SCA12 iPSCs have normal karyotype, express pluripotency markers and are able to differentiate into the three germ layers.

引用

页数：5

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