Generation of an induced pluripotent stem cell line (ZZUi022-A) from a paroxysmal kinesigenic dyskinesia individual carrying the PRRT2 gene mutation

Liyuan Fan; Chengyuan Mao; Changhe Shi; Yu Fan; Fen Liu; Huimin Zheng; Yun Su; Han Liu; Yanlin Wang; Yu-tao Liu; Jing Yang; Yuming Xu

Stem Cell Research (Mar 2021)

Generation of an induced pluripotent stem cell line (ZZUi022-A) from a paroxysmal kinesigenic dyskinesia individual carrying the PRRT2 gene mutation

Liyuan Fan,
Chengyuan Mao,
Changhe Shi,
Yu Fan,
Fen Liu,
Huimin Zheng,
Yun Su,
Han Liu,
Yanlin Wang,
Yu-tao Liu,
Jing Yang,
Yuming Xu

Affiliations

Liyuan Fan: Department of Neurology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China; Academy of Medical Sciences of Zhengzhou University, Zhengzhou, Henan, China
Chengyuan Mao: Department of Neurology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China
Changhe Shi: Department of Neurology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China
Yu Fan: Department of Neurology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China; Academy of Medical Sciences of Zhengzhou University, Zhengzhou, Henan, China
Fen Liu: Department of Neurology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China; Academy of Medical Sciences of Zhengzhou University, Zhengzhou, Henan, China
Huimin Zheng: Department of Neurology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China
Yun Su: Department of Neurology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China
Han Liu: Department of Neurology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China
Yanlin Wang: Department of Neurology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China
Yu-tao Liu: Department of Neurology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China
Jing Yang: Department of Neurology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China; Corresponding authors.
Yuming Xu: Department of Neurology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China; Corresponding authors.

Journal volume & issue: Vol. 51
p. 102210

Abstract

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Paroxysmal kinesigenic dyskinesia (PKD), the most common type of paroxysmal movement disorders, is caused by mutations in PRRT2 gene. We identified an unreported PRRT2 c. 535 C > T (p. Q 1 7 9 *) pathogenic mutation in a Chinese Han family with PKD and generated an induced pluripotent stem cell (iPSC) line from a patient in the family by reprogramming fibroblasts with sendai virus. The iPSC line was characterized for genetic uniqueness, genomic integrity, pluripotency, and differentiation ability. This iPSC line will be a powerful tool to to study the molecular mechanisms underlying PKD.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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