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Generation of a human iPSC line from a Parkinson's disease patient with a novel CHCHD2 mutation (p.R145Q).
Chen, Xiaona; Sun, Jing; Wang, Tian; Tang, Qingyuan; Su, Lu; Sun, Yimin; Chen, Liang; Seo, Hyemyung; Cheng, Tianlin; Wang, Jian; Song, Bin.
Afiliación
  • Chen X; Institute for Translational Brain Research, State Key Laboratory of Medical Neurobiology, MOE Frontiers Center for Brain Science, Fudan University, Shanghai 200032, China.
  • Sun J; Institute for Translational Brain Research, State Key Laboratory of Medical Neurobiology, MOE Frontiers Center for Brain Science, Fudan University, Shanghai 200032, China.
  • Wang T; Institute for Translational Brain Research, State Key Laboratory of Medical Neurobiology, MOE Frontiers Center for Brain Science, Fudan University, Shanghai 200032, China.
  • Tang Q; Guangdong Provincial Key Laboratory of Brain Function and Disease, Department of Pharmacology, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, China.
  • Su L; 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 2
  • Sun Y; Institute of Neurology, National Clinical Research Center for Aging and Medicine, Huashan Hospital, Fudan University, Shanghai 200032, China.
  • Chen L; Department of Neurosurgery, Huashan Hospital, Fudan University, Shanghai 200032, China.
  • Seo H; Department of Medicinal and Life Sciences, The Center for Bionano, Intelligence Education and Research, Institute for Precision Therapeutics, Hanyang University, Ansan, South Korea.
  • Cheng T; Institute for Translational Brain Research, State Key Laboratory of Medical Neurobiology, MOE Frontiers Center for Brain Science, Fudan University, Shanghai 200032, China.
  • Wang J; 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.
  • Song B; 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, Massachusett
Stem Cell Res ; 77: 103419, 2024 Jun.
Article en En | MEDLINE | ID: mdl-38631182
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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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad de Parkinson / Factores de Transcripción / Proteínas Mitocondriales / Proteínas de Unión al ADN / Células Madre Pluripotentes Inducidas / Mutación Límite: Humans / Male Idioma: En Año: 2024 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad de Parkinson / Factores de Transcripción / Proteínas Mitocondriales / Proteínas de Unión al ADN / Células Madre Pluripotentes Inducidas / Mutación Límite: Humans / Male Idioma: En Año: 2024 Tipo del documento: Article