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从一名早发性帕金森病患者中生成携带PLA2G6基因纯合c.1898C>T（p.A633V）突变的诱导多能干细胞系LNDWCHi001-A。

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.

作者信息

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

机构信息

Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare Diseases Center, West China Hospital, Sichuan University, Chengdu, China.

Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare Diseases Center, West China Hospital, Sichuan University, Chengdu, China.

出版信息

Stem Cell Res. 2024 Mar;75:103305. doi: 10.1016/j.scr.2024.103305. Epub 2024 Jan 8.

DOI:10.1016/j.scr.2024.103305
PMID:38215561
Abstract

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.

摘要

已发现磷脂酶A2第VI组基因（PLA2G6，PARK14）的一种变体可导致早发性帕金森病（EOPD）。在本研究中，我们对一名39岁携带纯合PLA2G6突变c.1898C>T（p.A633V）的EOPD患者的外周血单个核细胞进行重编程，以生成人诱导多能干细胞系LNDWCHi001-A。该细胞系基于多能性标志物进行鉴定，并表现出分化能力，为研究EOPD的发病机制和药物筛选提供了一个重要模型。

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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.从一名早发性帕金森病患者中生成携带PLA2G6基因纯合c.1898C>T（p.A633V）突变的诱导多能干细胞系LNDWCHi001-A。
Stem Cell Res. 2024 Mar;75:103305. doi: 10.1016/j.scr.2024.103305. Epub 2024 Jan 8.
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