Construction of induced pluripotent stem cell line (ZZUi0017-A) from the fibroblast cells of a female patient with CACNA1A mutation by unintegrated reprogramming approach

Jing Yang; Han Liu; Huifang Sun; Zhuoya Wang; Rui Zhang; Yutao Liu; Qi Zhang; Shoutao Zhang; Jin Zhang; Changhe Shi; Yanlin Wang; Yuming Xu

doi:10.1016/j.scr.2020.101946

Construction of induced pluripotent stem cell line (ZZUi0017-A) from the fibroblast cells of a female patient with CACNA1A mutation by unintegrated reprogramming approach

Stem Cell Res. 2020 Oct:48:101946. doi: 10.1016/j.scr.2020.101946. Epub 2020 Aug 4.

Authors

Jing Yang¹, Han Liu¹, Huifang Sun¹, Zhuoya Wang¹, Rui Zhang¹, Yutao Liu¹, Qi Zhang¹, Shoutao Zhang², Jin Zhang³, Changhe Shi⁴, Yanlin Wang⁵, Yuming Xu⁶

Affiliations

¹ Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China; Zhengzhou University, Zhengzhou, Henan 450001, China.
² School of Life Sciences, Zhengzhou University, Zhengzhou, Henan 450001, China; Zhengzhou University, Zhengzhou, Henan 450001, China.
³ Center for Stem Cell and Regenerative Medicine, Department of Basic Medical Sciences, and The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang 310058, China; Institute of Hematology, Zhejiang University, Hangzhou, Zhejiang 310058, China; Zhengzhou University, Zhengzhou, Henan 450001, China.
⁴ Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China; Zhengzhou University, Zhengzhou, Henan 450001, China. Electronic address: shichanghe@gmail.com.
⁵ Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China; Zhengzhou University, Zhengzhou, Henan 450001, China. Electronic address: wyllyh1986@126.com.
⁶ Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China; Zhengzhou University, Zhengzhou, Henan 450001, China. Electronic address: xuyuming@zzu.edu.cn.

PMID: 32791484
DOI: 10.1016/j.scr.2020.101946

Abstract

Ataxia is a common clinical symptom of neurodegenerative diseases, such as spinocerebellar ataxia, Parkinson's disease. Spinocerebellar ataxia includes more than 40 types. In clinical work, we collected the clinical data and skin tissue of one patient with SCA6 who have definitive genetic test results. More than that, we reprogrammed the patient derived fibroblast cells to induced pluripotent stem cells (iPSCs) to construct a SCA6 pathological cell model. The cell line was proved having good pluripotency through detection of pluripotent marker and teratoma formation. This iPS cell line is a special cell model for revealing mechanism and identifying potential therapeutic targets.

Publication types

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

MeSH terms

Calcium Channels
Cell Differentiation
Cellular Reprogramming
Female
Fibroblasts
Humans
Induced Pluripotent Stem Cells*
Mutation
Spinocerebellar Ataxias*

Substances

CACNA1A protein, human
Calcium Channels