Generation of induced pluripotent stem cell line (ZZUi0014-A) from a patient with spinocerebellar ataxia type 3.

Abstract

Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant disorder that is caused by the abnormal amplification of cytosine-adenine-guanine (CAG) trinucleotide repeats in the ATXN3 gene. The main feature of SCA3 is progressive ataxia. Currently, no effective treatment exists for this condition. For this study, we obtained dermal fibroblasts from a patient. The fibroblasts were successfully transformed into induced pluripotent stem cells (iPSCs) by employing episomal plasmids expressing OCT3/4, SOX2, KLF4, LIN28, and L-MYC. Our approach offers a resource for further research into SCA3 mechanism in an attempt to facilitate the development and screening of pharmaceutical and gene therapy.

• Authors: Yanlin Wang, Huifang Sun, Zhuoya Wang, Yiwei Yue, Rui Zhang, Jing Yang, Yutao Liu, Han Liu, Qi Zhang, Shoutao Zhang, Jin Zhang, Yuming Xu, Changhe Shi
• Journal: Stem cell research (Stem Cell Res) Vol. 41 Pg. 101564 (12 2019) ISSN: 1876-7753 [Electronic] England
• PMID: 31639609 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Chemical References

• KLF4 protein, human
• Kruppel-Like Factor 4
• Repressor Proteins
• ATXN3 protein, human
• Ataxin-3

Topics

• Ataxin-3 (genetics, metabolism)
• Cell Line
• Cellular Reprogramming Techniques
• Dermis (metabolism, pathology)
• Fibroblasts (metabolism, pathology)
• Gene Amplification
• Humans
• Induced Pluripotent Stem Cells (metabolism, pathology)
• Kruppel-Like Factor 4
• Machado-Joseph Disease (genetics, metabolism, pathology)
• Repressor Proteins (genetics, metabolism)