Generation of induced pluripotent stem cell line (CSUXHi002-A) from a patient with spinocerebellar ataxia type 1
2020
Lang He | Huifang Zhao | Shuai Li | Xiaobo Han | Zhao Chen | Chunrong Wang | Chao Tian | Feng Tang | Rongqi Huang | Zuoxian Lin | Zhiyuan Li | Beisha Tang | Hong Jiang
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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