Production of a human iPSC line from an early-onset Parkinson’s disease patient with a novel CHCHD2 gene truncated mutation

Zheng Jiang; Xiao-Jing Gu; Wei-Ming Su; Qing-Qing Duan; Jun-Yu Lin; Bei Cao; Hui-Fang Shang; Yong-Ping Chen

Stem Cell Research (Oct 2022)

Production of a human iPSC line from an early-onset Parkinson’s disease patient with a novel CHCHD2 gene truncated mutation

Zheng Jiang,
Xiao-Jing Gu,
Wei-Ming Su,
Qing-Qing Duan,
Jun-Yu Lin,
Bei Cao,
Hui-Fang Shang,
Yong-Ping Chen

Affiliations

Zheng Jiang: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China; Lab of Neurodegenerative Disorders, Institute of Inflammation and Immunology (III), Frontiers Science Center for Disease-Related Molecular Network, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China; Centre for Rare Diseases, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China
Xiao-Jing Gu: Mental Health Center, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China
Wei-Ming Su: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China; Lab of Neurodegenerative Disorders, Institute of Inflammation and Immunology (III), Frontiers Science Center for Disease-Related Molecular Network, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China; Centre for Rare Diseases, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China
Qing-Qing Duan: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China; Lab of Neurodegenerative Disorders, Institute of Inflammation and Immunology (III), Frontiers Science Center for Disease-Related Molecular Network, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China; Centre for Rare Diseases, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China
Jun-Yu Lin: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China; Lab of Neurodegenerative Disorders, Institute of Inflammation and Immunology (III), Frontiers Science Center for Disease-Related Molecular Network, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China; Centre for Rare Diseases, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China
Bei Cao: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China; Lab of Neurodegenerative Disorders, Institute of Inflammation and Immunology (III), Frontiers Science Center for Disease-Related Molecular Network, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China; Centre for Rare Diseases, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China
Hui-Fang Shang: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China; Lab of Neurodegenerative Disorders, Institute of Inflammation and Immunology (III), Frontiers Science Center for Disease-Related Molecular Network, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China; Centre for Rare Diseases, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China; Corresponding authors at: Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare disease center, West China Hospital, Sichuan University, 610041 Chengdu, Sichuan, China.
Yong-Ping Chen: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China; Lab of Neurodegenerative Disorders, Institute of Inflammation and Immunology (III), Frontiers Science Center for Disease-Related Molecular Network, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China; Centre for Rare Diseases, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China; Corresponding authors at: Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare disease center, West China Hospital, Sichuan University, 610041 Chengdu, Sichuan, China.

Journal volume & issue: Vol. 64
p. 102881

Abstract

Read online

CHCHD2 mutations have been reported to cause Parkinson’s disease (PD) by a loss of function in mitochondria. Most reported mutations, however, were missense, which was not the perfect model for a study of haploinsufficiency. Here, a truncated mutation, CHCHD2 p.Pro53Alafs*38, was identified in one familial early-onset PD patient. We generated a human-induced pluripotent stem cell (iPSC) line WCHSCUi001-A from this patient. The generated iPSCs resembled human embryonic stem cells, expressed pluripotency markers, exhibited a normal karyotype and could be differentiated into three germ layers in vitro. This line will be valuable for investigating the disease mechanisms and screening candidate drugs.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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