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 (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. Copyright © 2021. Published by Elsevier B.V.

Authors Fan L, Mao C, Shi C, Fan Y, Liu F, Zheng H, Su Y, Liu H, Wang Y, Liu YT, Yang J, Xu Y
Journal Stem cell research
Publication Date 2021 Mar;51:102210
PubMed 33550051
DOI 10.1016/j.scr.2021.102210

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