从携带PRRT2基因突变的发作性运动诱发性运动障碍个体中生成诱导多能干细胞系（ZZUi022-A）。
Generation of an induced pluripotent stem cell line (ZZUi022-A) from a paroxysmal kinesigenic dyskinesia individual carrying the PRRT2 gene mutation.
作者信息
Fan Liyuan, Mao Chengyuan, Shi Changhe, Fan Yu, Liu Fen, Zheng Huimin, Su Yun, Liu Han, Wang Yanlin, Liu Yu-Tao, Yang Jing, Xu Yuming
机构信息
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.
Department of Neurology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
出版信息
Stem Cell Res. 2021 Mar;51:102210. doi: 10.1016/j.scr.2021.102210. Epub 2021 Jan 29.
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.
发作性运动诱发性运动障碍（PKD）是最常见的发作性运动障碍类型，由PRRT2基因突变引起。我们在一个患有PKD的中国汉族家庭中鉴定出一种未报道的PRRT2基因c.535 C>T（p.Q179*）致病突变，并通过仙台病毒重编程成纤维细胞，从该家庭的一名患者中生成了诱导多能干细胞（iPSC）系。对该iPSC系的遗传独特性、基因组完整性、多能性和分化能力进行了表征。该iPSC系将成为研究PKD潜在分子机制的有力工具。
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