Generation of an induced pluripotent stem cell line (XHCSUi001-A) from urine cells of a patient with spinocerebellar ataxia type 3

Lang He; Wei Ye; Zhao Chen; Chunrong Wang; Huifang Zhao; Shuai Li; Linliu Peng; Xiaobo Han; Tiancheng Zhou; Zhiyuan Li; Beisha Tang; Hong Jiang

doi:10.1016/j.scr.2019.101555

Generation of an induced pluripotent stem cell line (XHCSUi001-A) from urine cells of a patient with spinocerebellar ataxia type 3

Stem Cell Res. 2019 Oct:40:101555. doi: 10.1016/j.scr.2019.101555. Epub 2019 Aug 27.

Authors

Lang He¹, Wei Ye¹, Zhao Chen¹, Chunrong Wang¹, Huifang Zhao², Shuai Li³, Linliu Peng¹, Xiaobo Han³, Tiancheng Zhou⁴, 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, 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: [email protected].

PMID: 31491691
DOI: 10.1016/j.scr.2019.101555

Abstract

The induced pluripotent stem cell (iPSC) line XHCSUi001-A generated from urine cells of a female spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) patient by using the integration-free methods. The induced XHCSUi001-A retained the disease-causing ATXN3 mutation, expressed pluripotency markers, exhibited a normal karyotype and retained the ability to differentiate into the three germ layers in-vitro and in-vivo. This newly induced iPSC line could be a potential tool for researching the disease-specific mechanisms and drug screening of SCA3/MJD.

Publication types

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

MeSH terms

Ataxin-3 / genetics
Ataxin-3 / metabolism
Cell Differentiation
Cell Line / cytology*
Cell Line / metabolism
Cellular Reprogramming
Child
Female
Humans
Induced Pluripotent Stem Cells / cytology*
Induced Pluripotent Stem Cells / metabolism
Machado-Joseph Disease / genetics
Machado-Joseph Disease / metabolism
Machado-Joseph Disease / physiopathology
Mutation

Substances

Ataxin-3