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

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

doi:10.1016/j.scr.2022.102995

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

Stem Cell Res. 2023 Feb:66:102995. doi: 10.1016/j.scr.2022.102995. Epub 2022 Dec 9.

Authors

Lingfei Li¹, Xiaoli Si², Jiayin Yang³, Meng Lei⁴, Huifang Liu⁵, Jie Ruan⁶, Hanting Fu⁷, Wenxuan Li⁷, Hui Yang¹, Xiaoguang Lei⁸, Hongfei Sang⁹

Affiliations

¹ Department of Neurology, Affiliated Hangzhou First People's Hospital, Zhejiang University School of Medicine, Hangzhou 310000, China.
² Department of Neurology, the Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310000, China.
³ Laboratory of iPSC and Disease Models, Cell Inspire Biotechnology Co., Ltd., Shenzhen, 518101, China.
⁴ Department of Neurology, The Third People's Hospital of Henan Province, Zhengzhou 450000, China.
⁵ Division of Neurology, Department of Medicine, University of Hong Kong, Hong Kong.
⁶ Department of Clinical Pharmacy, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310000, China.
⁷ The 1(st) School of Medicine, School of Information and Engineering, Wenzhou Medical University, Wenzhou 325000, China.
⁸ Department of Neurology, First Affiliated Hospital of Kunming Medical University, No.1 School of Clinical Medicine, Kunming Medical University, Kunming 650500, China. Electronic address: leixiaoguang@zju.edu.cn.
⁹ Department of Neurology, Affiliated Hangzhou First People's Hospital, Zhejiang University School of Medicine, Hangzhou 310000, China. Electronic address: sanghongfei1988@163.com.

PMID: 36528012
DOI: 10.1016/j.scr.2022.102995

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cell Line
Humans
Induced Pluripotent Stem Cells* / metabolism
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 / genetics
Mutation / genetics
Parkinson Disease* / genetics
Parkinson Disease* / metabolism
Protein Kinases / genetics

Substances

Protein Kinases
LRRK2 protein, human
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2