Generation of induced pluripotent stem cell line (ZZUi0026-A) from a patient with spinocerebellar ataxia type 3


Spinocerebellar ataxia type 3 (SCA3) is a progressive neurodegenerative disease caused by CAG repeat expansion of the ATXN3 gene encoding ataxin-3 protein and is mainly manifested by motor symptoms such as ataxia and non-motor symptoms such as cognitive dysfunction. In this study, we obtained skin fibroblasts from a SCA3 patient and successfully constructed induced pluripotent stem cells (iPSCs) using the reprogramming plasmids expressing OCT3/4, SOX2, KLF4, LIN28, and L-MYC. The generated iPSC line had a stable karyotype, expressed pluripotency markers, and could differentiate into all three germ layers in vitro. In addition, the iPSC line may be a useful model for identifying SCA3-related pathological mechanisms. Copyright © 2021. Published by Elsevier B.V.

Authors Fang J, Wang Y, Wang Z, Sun H, Zhang Q, Yang J, Liu Y, Liu H, Shi C, Xu Y, Zhang X, Kan Q
Journal Stem cell research
Publication Date 2021 May;53:102205
PubMed 34087977
DOI 10.1016/j.scr.2021.102205

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