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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.
Li, Lingfei; Si, Xiaoli; Lei, Meng; Yang, Jiayin; Ruan, Jie; Liu, Huifang; Huang, Feifan; Jin, Xuanxiang; Xie, Keyue; Yang, Hui; Lei, Xiaoguang; Liu, Yao.
Afiliación
  • Li L; Department of Neurology, Affiliated Hangzhou First People's Hospital, Zhejiang University School of Medicine, Hangzhou 310000, China.
  • Si X; Department of Neurology, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310000, China.
  • Lei M; Department of Neurology, The Third People's Hospital of Henan Province, Zhengzhou 450000, China.
  • Yang J; Laboratory of iPSC and Disease Models, Cell Inspire Biotechnology Co., Ltd, Shenzhen 518101, China.
  • Ruan J; Department of Clinical Pharmacy, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310000, China.
  • Liu H; Division of Neurology, Department of Medicine, University of Hong Kong, Hong Kong.
  • Huang F; The 1st School of Medicine, School of Information and Engineering, Wenzhou Medical University, Wenzhou 325000, Zhejiang, China.
  • Jin X; The 1st School of Medicine, School of Information and Engineering, Wenzhou Medical University, Wenzhou 325000, Zhejiang, China.
  • Xie K; Department of Anesthesiology and Pain, The Affiliated Hospital of Jiaxing University, Jiaxing 314000, Zhejiang, China.
  • Yang H; Department of Neurology, Affiliated Hangzhou First People's Hospital, Zhejiang University School of Medicine, Hangzhou 310000, China.
  • Lei X; Department of Neurology, First Affiliated Hospital of Kunming Medical University, No.1 School of Clinical Medicine, Kunming Medical University, Kunming 650500, China.
  • Liu Y; School of Rehabilitation, Kunming Medical University, Kunming 650500, China. Electronic address: liuyao@kmmu.edu.cn.
Stem Cell Res ; 66: 102983, 2023 02.
Article en En | MEDLINE | ID: mdl-36469984
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 (chr18037723, c.334C>G). The generated iPSCs will be used for investigating phenotype and underlying molecular mechanisms in patient-derived cells.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Parkinson / Células Madre Pluripotentes Inducidas Límite: Humans Idioma: En Revista: Stem Cell Res Año: 2023 Tipo del documento: Article País de afiliación: China
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Parkinson / Células Madre Pluripotentes Inducidas Límite: Humans Idioma: En Revista: Stem Cell Res Año: 2023 Tipo del documento: Article País de afiliación: China