Generation of a human iPSC line from a Parkinson's disease patient with a novel CHCHD2 mutation (p.R145Q)

Xiaona Chen; Jing Sun; Tian Wang; Qingyuan Tang; Lu Su; Yimin Sun; Liang Chen; Hyemyung Seo; Tianlin Cheng; Jian Wang; Bin Song

doi:10.1016/j.scr.2024.103419

Generation of a human iPSC line from a Parkinson's disease patient with a novel CHCHD2 mutation (p.R145Q)

Stem Cell Res. 2024 Jun:77:103419. doi: 10.1016/j.scr.2024.103419. Epub 2024 Apr 9.

Authors

Xiaona Chen¹, Jing Sun¹, Tian Wang¹, Qingyuan Tang², Lu Su³, Yimin Sun⁴, Liang Chen⁵, Hyemyung Seo⁶, Tianlin Cheng¹, Jian Wang⁷, Bin Song⁸

Affiliations

¹ Institute for Translational Brain Research, State Key Laboratory of Medical Neurobiology, MOE Frontiers Center for Brain Science, Fudan University, Shanghai 200032, China.
² Guangdong Provincial Key Laboratory of Brain Function and Disease, Department of Pharmacology, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, China.
³ Institute for Translational Brain Research, State Key Laboratory of Medical Neurobiology, MOE Frontiers Center for Brain Science, Fudan University, Shanghai 200032, China; Institute of Neurology, National Clinical Research Center for Aging and Medicine, Huashan Hospital, Fudan University, Shanghai 200032, China.
⁴ Institute of Neurology, National Clinical Research Center for Aging and Medicine, Huashan Hospital, Fudan University, Shanghai 200032, China.
⁵ Department of Neurosurgery, Huashan Hospital, Fudan University, Shanghai 200032, China.
⁶ Department of Medicinal and Life Sciences, The Center for Bionano, Intelligence Education and Research, Institute for Precision Therapeutics, Hanyang University, Ansan, South Korea.
⁷ Institute of Neurology, National Clinical Research Center for Aging and Medicine, Huashan Hospital, Fudan University, Shanghai 200032, China. Electronic address: wangjian_hs@fudan.edu.cn.
⁸ Institute for Translational Brain Research, State Key Laboratory of Medical Neurobiology, MOE Frontiers Center for Brain Science, Fudan University, Shanghai 200032, China; Department of Neurosurgery, Huashan Hospital, Fudan University, Shanghai 200032, China; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA. Electronic address: bsong@mgh.harvard.edu.

PMID: 38631182
DOI: 10.1016/j.scr.2024.103419

Abstract

Mutations in CHCHD2 have been reported to be associated with familial Parkinson's disease (PD). We generated a human induced pluripotent stem cell (hiPSC) line by reprogramming dermal fibroblasts from a PD patient harboring a novel CHCHD2 mutation (c.434G > A, p.R145Q). This line exhibited human embryonic stem cell (hESC)-like clonal morphology, expression of undifferentiated stem cell markers, a normal karyotype and trilineage differentiation capacity and thus the potential to serve as a model for further investigating the underlying molecular mechanisms of CHCHD2 function in PD.

MeSH terms

Cell Differentiation
Cell Line
DNA-Binding Proteins* / genetics
DNA-Binding Proteins* / metabolism
Humans
Induced Pluripotent Stem Cells* / metabolism
Male
Mitochondrial Proteins* / genetics
Mitochondrial Proteins* / metabolism
Mutation*
Parkinson Disease* / genetics
Parkinson Disease* / pathology
Transcription Factors* / genetics
Transcription Factors* / metabolism

Substances

CHCHD2 protein, human
Transcription Factors
DNA-Binding Proteins
Mitochondrial Proteins