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Stem Cell Res. 2019 Mar;35:101395. doi: 10.1016/j.scr.2019.101395. Epub 2019 Jan 28.

Generation of induced pluripotent stem cell line (ZZUi0012-A) from a patient with Fahr's disease caused by a novel mutation in SLC20A2 gene.

Author information

1
Anatomy and Histology, Basic Medical School, Zhengzhou University, Zhengzhou 450001, China.
2
Anatomy and Histology, Basic Medical School, Zhengzhou University, Zhengzhou 450001, China; Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
3
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
4
School of life sciences, Zhengzhou University, Zhengzhou, Henan 450001, China.
5
Center for Stem Cell and Regenerative Medicine, Department of Basic Medical Sciences, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang 310058, China; Institute of Hematology, Zhejiang University, Hangzhou, Zhejiang 310058, China.
6
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China. Electronic address: wyllyh1986@126.com.
7
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China. Electronic address: fanghui2005@163.com.
8
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China. Electronic address: xuyuming@zzu.edu.cn.

Abstract

Several SLC20A2 mutations have been implicated as potential causes of Fahr's disease, a subtype of primary familial brain calcification (PFBC), but very few patient-derived induced pluripotent stem cell (iPSC) models have been established. We have identified a novel SLC20A2 mutation in a family with Fahr's disease. We subsequently obtained dermal fibroblasts from a patient in this family. These fibroblasts were successfully transformed into iPSCs by employing episomal plasmids expressing OCT3/4, SOX2, KLF4, LIN28, and L-MYC. Our approach offers a resource and a platform for further research into the mechanism of Fahr's disease and could facilitate development and screening of pharmaceutical and gene therapies.

PMID:
30776674
DOI:
10.1016/j.scr.2019.101395
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