Generation of Spinocerebellar Ataxia Type 2 induced pluripotent stem cell lines, CHOPi002-A and CHOPi003-A, from patients with abnormal CAG repeats in the coding region of the ATXN2 gene
Generation of Spinocerebellar Ataxia Type 2 induced pluripotent stem cell lines, CHOPi002-A and CHOPi003-A, from patients with abnormal CAG repeats in the coding region of the ATXN2 gene
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DOI：
10.1016/j.scr.2018.101361
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发表时间：
2019-01-01
影响因子：
1.2
通讯作者：
French, Deborah L.
中科院分区：
文献类型：
--
作者：
Maguire, Jean Ann;Gagne, Alyssa L.;French, Deborah L.
脊髓小脑性共济失调2型（SCA2）是一种常染色体显性遗传疾病，其特征是小脑、脑干和脊髓的进行性变性。SCA2是由ATXN2基因编码区异常CAG三核苷酸重复扩增引起的自发错误折叠和聚集体形成引起的。在这里，我们描述了从SCA2患者产生两种不同的iPSC系。
Spinocerebellar Ataxia Type 2 (SCA2) is an autosomal dominant disease characterized by progressive degeneration of the cerebellum, brain stem, and spinal cord. SCA2 is caused by spontaneous misfolding and aggregate formation from abnormal CAG trinucleotide repeat expansion in the coding region of the ATXN2 gene. Here we describe the generation of two distinct iPSC lines from patients with SCA2.