诱导多能干细胞
生物
帕金森病
突变
表型
疾病
细胞培养
遗传学
癌症研究
内科学
基因
医学
胚胎干细胞
作者
Lingfei Li,Xiaoli Si,Meng Lei,Jiayin Yang,Jie Ruan,Huifang Liu,Feifan Huang,Xuanxiang Jin,Keyue Xie,Hui Yang,Xiaoguang Lei,Yao Liu
标识
DOI:10.1016/j.scr.2022.102983
摘要
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.
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