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

Lingfei Li,Xiaoli Si,Meng Lei,Jiayin Yang,Jie Ruan,Huifang Liu,Feifan Huang,Xuanxiang Jin,Keyue Xie,Hui Yang,Xiaoguang Lei,Yao Liu

doi:10.1016/j.scr.2022.102983

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

Lingfei Li, Xiaoli Si + Show 10 more

Open Access

https://doi.org/10.1016/j.scr.2022.102983

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Journal: Stem Cell Research	Publication Date: Nov 24, 2022
License type: cc-by-nc-nd

Affiliation: Hangzhou First People's Hospital, Zhejiang University, Sanya Central Hospital, First Affiliated Hospital Zhejiang University, University of Hong Kong, Wenzhou Medical University, Jiaxing University, First Affiliated Hospital of Kunming Medical University, Kunming Medical University

#Young-onset Parkinson’s Disease #Mutations In PARK7 + Show 8 more

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Abstract

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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