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

Stem cell research

article

Lingfei Li¹  Xiaoli Si²  Jiayin Yang³  Meng Lei⁴  Huifang Liu⁵  Jie Ruan⁶  Hanting Fu⁷  Wenxuan Li⁷  Hui Yang¹  Xiaoguang Lei⁷  Hongfei Sang¹ 

[1]Department of Neurology, Affiliated Hangzhou First People’s Hospital, Zhejiang University School of Medicine

[2]Department of Neurology, the Second Affiliated Hospital, School of Medicine, Zhejiang University

[3]Laboratory of iPSC and Disease Models, Cell Inspire Biotechnology Co., Ltd.

[4]Department of Neurology, The Third People's Hospital of Henan Province

[5]Division of Neurology, Department of Medicine, University of Hong Kong

[6]Department of Clinical Pharmacy, The First Affiliated Hospital, Zhejiang University School of Medicine

[7]Department of Neurology, First Affiliated Hospital of Kunming Medical University, No.1 School of Clinical Medicine, Kunming Medical University

DOI  :  10.1016/j.scr.2022.102995

学科分类：生理学

来源: Academic Press

【 摘 要 】

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.

【 授权许可】

CC BY|CC BY-NC-ND