从一名患有携带新型纯合PARK7（DJ-1）突变的早发性帕金森病患者中生成人诱导多能干细胞系（CIBi013-A）。
Generation of a human iPSC line (CIBi013-A) from a patient with young-onset Parkinson's disease carrying a novel homozygous PARK7 (DJ-1) mutation.
作者信息
Li Lingfei, Si Xiaoli, Lei Meng, Yang Jiayin, Ruan Jie, Liu Huifang, Huang Feifan, Jin Xuanxiang, Xie Keyue, Yang Hui, Lei Xiaoguang, Liu Yao
机构信息
Department of Neurology, Affiliated Hangzhou First People's Hospital, Zhejiang University School of Medicine, Hangzhou 310000, China.
Department of Neurology, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310000, China.
出版信息
Stem Cell Res. 2023 Feb;66:102983. doi: 10.1016/j.scr.2022.102983. Epub 2022 Nov 24.
Mutations in PARK7 and the resulting alterations in its production protein (DJ-1) are tightly associated with Parkinson's disease. We generated a human induced pluripotent stem cell (iPSC) line (CIBi013-A) from a patient with young-onset Parkinson's disease (YOPD) who carried a novel homozygous PARK7 (DJ-1) mutation (chr1:8037723, c.334C>G). The generated iPSCs will be used for investigating phenotype and underlying molecular mechanisms in patient-derived cells.
PARK7基因的突变及其产生的蛋白质（DJ-1）改变与帕金森病密切相关。我们从一名携带新型纯合PARK7（DJ-1）突变（chr1:8037723，c.334C>G）的早发性帕金森病（YOPD）患者中生成了人诱导多能干细胞（iPSC）系（CIBi013-A）。所生成的诱导多能干细胞将用于研究患者来源细胞中的表型和潜在分子机制。
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