. 2024 Jun:77:103419.

doi: 10.1016/j.scr.2024.103419. Epub 2024 Apr 9.

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

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

Free article

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

Xiaona Chen et al. Stem Cell Res. 2024 Jun.

Free article

. 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.

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Conflict of interest statement

Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

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

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

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