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