Generation of induced pluripotent stem cell line LNDWCHi001-A from a patient with early-onset Parkinson’s disease carrying the homozygous c.1898C > T (p. A633V) mutation in the PLA2G6 gene

Jingxuan Huang; Qirui Jiang; Dejiang Pang; Yujiao Yu; Yiyuan Cui; Chunyu Li; Huifang Shang

Stem Cell Research (Mar 2024)

Generation of induced pluripotent stem cell line LNDWCHi001-A from a patient with early-onset Parkinson’s disease carrying the homozygous c.1898C > T (p. A633V) mutation in the PLA2G6 gene

Jingxuan Huang,
Qirui Jiang,
Dejiang Pang,
Yujiao Yu,
Yiyuan Cui,
Chunyu Li,
Huifang Shang

Affiliations

Jingxuan Huang: Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare Diseases Center, West China Hospital, Sichuan University, Chengdu, China
Qirui Jiang: Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare Diseases Center, West China Hospital, Sichuan University, Chengdu, China
Dejiang Pang: Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare Diseases Center, West China Hospital, Sichuan University, Chengdu, China
Yujiao Yu: Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare Diseases Center, West China Hospital, Sichuan University, Chengdu, China
Yiyuan Cui: Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare Diseases Center, West China Hospital, Sichuan University, Chengdu, China
Chunyu Li: Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare Diseases Center, West China Hospital, Sichuan University, Chengdu, China; Corresponding authors at: No. 37, Guoxue Lane, 610041, Chengdu, Sichuan, China
Huifang Shang: Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare Diseases Center, West China Hospital, Sichuan University, Chengdu, China; Corresponding authors at: No. 37, Guoxue Lane, 610041, Chengdu, Sichuan, China

Journal volume & issue: Vol. 75
p. 103305

Abstract

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A variant of the phospholipase A2 group VI gene (PLA2G6, PARK14) has been found to cause early-onset Parkinson’s disease (EOPD). In this study, we reprogrammed peripheral blood mononuclear cells from a 39-year-old patient with EOPD carrying a homozygous PLA2G6 mutation c.1898C > T (p. A633V) to generate the human induced pluripotent stem cell line LNDWCHi001-A. This cell line was identified based on pluripotent markers and displayed differentiation capacity, providing an essential model for studying the pathogenesis of EOPD and drug screening.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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