Generation of a human iPSC line (CIBi014-A) from a patient with Parkinson's disease carrying a novel heterozygotic PARK8 (LRRK2) mutation

从携带新型杂合 PARK8 (LRRK2) 突变的帕金森病患者体内生成人类 iPSC 系 (CIBi014-A)

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作者:Lingfei Li, Xiaoli Si, Jiayin Yang, Meng Lei, Huifang Liu, Jie Ruan, Hanting Fu, Wenxuan Li, Hui Yang, Xiaoguang Lei, Hongfei Sang

Abstract

Leucine-rich repeat kinase 2 (LRRK2), also known as Dardarin (derived from the Basque word "dardara," meaning tremor), is a protein kinase encoded by the PARK8 gene. This protein is mainly distributed in the cytoplasm; however, it is also present in the mitochondrial outer membrane. Mutations in the LRRK2 protein cause Parkinson's disease (PD). We generated a human induced pluripotent stem cell (iPSC) line (CIBi014-A) expressing pluripotency markers. This cell line exhibited a normal karyotype and could be differentiated into three germ layers in vitro. This line will be valuable for investigating the mechanism underlying PD and identifying potential therapeutic targets.

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