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

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

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 (...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Elsevier 2021-03-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506121000568
Description
Summary: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.
ISSN:1873-5061

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