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Generation of induced pluripotent stem cell line (CSUXHi002-A) from a patient with spinocerebellar ataxia type 1. 2020
Lang He, and
Huifang Zhao, and
Shuai Li, and
Xiaobo Han, and
Zhao Chen, and
Chunrong Wang, and
Chao Tian, and
Feng Tang, and
Rongqi Huang, and
Zuoxian Lin, and
Zhiyuan Li, and
Beisha Tang, and
Hong Jiang
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Spinocerebellar ataxia type 1 (SCA1) is a hereditary neurodegenerative disease caused by CAG repeated expansion in ATXN1 gene. We generated induced pluripotent stem cells (iPSCs) from the urine exfoliated epithelial cells of SCA1 patient by using the integration-free methods. The patient derived iPSCs retained the mutation (the 65 CAG expansion tracts in ATXN1 gene), displayed normal karyotypes, expressed pluripotency markers and had the potential to differentiate towards three germ layers in vivo. This type of stem cell model will be valuable for elucidating the pathological mechanism and screening potential drugs of SCA1.
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