Generation of induced pluripotent stem cell line (ZZUi0018-A ) from a patient with spinocerebellar ataxia type 6

被引：5

作者：

Yang, Ting ^{[1
]}

Qin, Jie ^{[1
]}

Zhang, Qi ^{[1
]}

Sun, Huifang ^{[1
]}

Wang, Zhuoya ^{[1
]}

Yang, Jing ^{[1
]}

Liu, Han ^{[1
]}

Zhang, Chan ^{[1
]}

Zhang, Shoutao ^{[2
]}

Zhang, Jin ^{[3
,4
,5
]}

Wang, Yanlin ^{[1
]}

Xu, Yuming ^{[1
]}

机构：

[1] Zhengzhou Univ, Affiliated Hosp 1, Dept Neurol, Zhengzhou 450052, Peoples R China

[2] Zhengzhou Univ, Sch Life Sci, Zhengzhou 450001, Henan, Peoples R China

[3] Zhejiang Univ, Dept Basic Med Sci, Ctr Stem Cell & Regenerat Med, Hangzhou 310058, Zhejiang, Peoples R China

[4] Zhejiang Univ, Affiliated Hosp 1, Coll Med, Hangzhou 310058, Zhejiang, Peoples R China

[5] Zhejiang Univ, Inst Hematol, Hangzhou 310058, Zhejiang, Peoples R China

来源：

STEM CELL RESEARCH | 2020年 / 44卷

基金：

国家重点研发计划; 中国国家自然科学基金;

关键词：

D O I：

10.1016/j.scr.2020.101777

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant hereditary disease caused by repeated CAG amplification in the CACNA1A gene. There is no specific treatment for SCA6, and the currently administered treatment is mainly symptomatic. The fibroblasts from a patient with SCA6 were successfully transformed into induced pluripotent stem cells (iPSCs), employing episomal plasmids expressing OCT3/4, SOX2, KLF4, LIN28, and L-MYC. Our method provides a platform for further studies on elucidating the mechanism underlying SCA6 pathogenesis, drug testing, and gene therapy. Du and Gomez C, 2018; McGrath et al., 2018; Wang et al., 2019

引用

页数：4

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