Generation of induced pluripotent stem cell line (CSUXHi002-A) from a patient with spinocerebellar ataxia type 1

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

doi:10.1016/j.scr.2020.101816

Generation of induced pluripotent stem cell line (CSUXHi002-A) from a patient with spinocerebellar ataxia type 1

Stem Cell Res. 2020 May:45:101816. doi: 10.1016/j.scr.2020.101816. Epub 2020 Apr 21.

Authors

Lang He¹, Huifang Zhao², Shuai Li³, Xiaobo Han³, Zhao Chen¹, Chunrong Wang¹, Chao Tian², Feng Tang³, Rongqi Huang⁴, Zuoxian Lin⁴, Zhiyuan Li⁵, Beisha Tang⁶, Hong Jiang⁷

Affiliations

¹ Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
² School of Life Sciences, University of Science and Technology of China, Hefei, China.
³ University of Chinese Academy of Sciences, Beijing, China.
⁴ CAS Key Laboratory of Regenerative Biology, Guangdong Provincial Key Laboratory of Stem Cell. and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China.
⁵ School of Life Sciences, University of Science and Technology of China, Hefei, China; University of Chinese Academy of Sciences, Beijing, China; CAS Key Laboratory of Regenerative Biology, Guangdong Provincial Key Laboratory of Stem Cell. and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China; GZMU-GIBH Joint School of Life Sciences, Guangzhou Medical University, Guangzhou, China; Department of Anatomy and Neurobiology, Xiangya School of Medicine, Central South. University, Changsha, Hunan, China.
⁶ Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China; National Clinical Research Center for Geriatric Diseases, Central South University, Changsha, Hunan, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, China; Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
⁷ Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China; National Clinical Research Center for Geriatric Diseases, Central South University, Changsha, Hunan, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, China; Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China; Xinjiang Medical University, Urumchi, Xinjiang, China. Electronic address: jianghong73868@126.com.

PMID: 32335388
DOI: 10.1016/j.scr.2020.101816

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Humans
Induced Pluripotent Stem Cells*
Mutation
Spinocerebellar Ataxias* / genetics