从一名携带复合杂合PLA2G6 p.D331Y/p.M358IfsX突变的早发性帕金森病患者中诱导产生多能干细胞。
Generation of induced pluripotent stem cells from a young-onset Parkinson's disease patient carrying the compound heterozygous PLA2G6 p.D331Y/p.M358IfsX mutations.
作者信息
Chiu Ching-Chi, Wang Hung-Li, Weng Yi-Hsin, Chen Rou-Shayn, Chen Chiung-Mei, Yeh Tu-Hsueh, Lu Chin-Song, Chen Yu-Jie, Liu Yu-Chuan, Huang Ying-Zu, Chang Kuo-Hsuan
机构信息
Neuroscience Research Center, Chang Gung Memorial Hospital at Linkou, Taoyuan, Taiwan; Department of Medical Biotechnology and Laboratory Science, College of Medicine, Chang Gung University, Taoyuan, Taiwan; Department of Nursing, Chang Gung University of Science and Technology, Taoyuan, Taiwan.
Neuroscience Research Center, Chang Gung Memorial Hospital at Linkou, Taoyuan, Taiwan; Department of Physiology and Pharmacology, Chang Gung University College of Medicine, Taoyuan, Taiwan; Healthy Aging Research Center, Chang Gung University College of Medicine, Taoyuan, Taiwan.
出版信息
Stem Cell Res. 2019 Oct;40:101552. doi: 10.1016/j.scr.2019.101552. Epub 2019 Aug 27.
Mutations in PLA2G6 gene cause PLA2G6-associated neurodegeneration, including recessive familial type 14 of Parkinson's disease (PARK14). Previously, we identified PARK14 patients with compound heterozygous c.991G > T/c.1077G > A (p.D331Y/p.M358IfsX) mutations. The c.1077G > A mutation led to a four base-pairs deletion and frameshift mutation (p.M358IfsX) of PLA2G6 mRNA. We established induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells of a female patient with compound heterozygous c.991G > T/c.1077G > A (p.D331Y/ p.M358IfsX) mutations by using Sendai-virus delivery system. The iPSCs exhibited pluripotency and in vivo differentiation potential. The iPSCs can be used for studying the molecular pathogenic mechanism of PARK14.
PLA2G6基因的突变会导致PLA2G6相关神经退行性疾病，包括帕金森病隐性家族性14型（PARK14）。此前，我们鉴定出携带复合杂合子c.991G>T/c.1077G>A（p.D331Y/p.M358IfsX）突变的PARK14患者。c.1077G>A突变导致PLA2G6 mRNA出现四个碱基对缺失和移码突变（p.M358IfsX）。我们通过仙台病毒递送系统，从一名携带复合杂合子c.991G>T/c.1077G>A（p.D331Y/p.M358IfsX）突变的女性患者的外周血单个核细胞中建立了诱导多能干细胞（iPSC）。这些iPSC表现出多能性和体内分化潜能。这些iPSC可用于研究PARK14的分子致病机制。
Zotero 插件