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


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. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors He L, Zhao H, Li S, Han X, Chen Z, Wang C, Tian C, Tang F, Huang R, Lin Z, Li Z, Tang B, Jiang H
Journal Stem cell research
Publication Date 2020 May;45:101816
PubMed 32335388
DOI 10.1016/j.scr.2020.101816

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