Your browser doesn't support javascript.
loading
Generation of the human induced pluripotent stem cell line (ZJUi005-A) from a patient with Pelizaeus-Merzbacher disease (PMD) carrying a novel hemizygous mutation in PLP1 gene.
Liu, Bei; Chen, Lang; Sun, Jian; Zhang, Li; Chen, Min; Qian, Yeqing; Wang, Yanlin; Yan, Kai; Hou, Linxiao; Huang, Yingzhi; Zhang, Dan; Xu, Yuming; Yu, Jialing; Zhang, Jin; Dong, Minyue.
Afiliação
  • Liu B; Department of Reproductive Genetics, Women's Hospital Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, China.
  • Chen L; Center for Stem Cell and Regenerative Medicine, Department of Basic Medical Sciences, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.
  • Sun J; Mudanjiang Medical University, Mudanjiang, Heilongjiang 157011, China.
  • Zhang L; Center for Stem Cell and Regenerative Medicine, Department of Basic Medical Sciences, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.
  • Chen M; Department of Reproductive Genetics, Women's Hospital Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, China.
  • Qian Y; Department of Reproductive Genetics, Women's Hospital Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, China.
  • Wang Y; Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
  • Yan K; Department of Reproductive Genetics, Women's Hospital Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, China.
  • Hou L; Center for Stem Cell and Regenerative Medicine, Department of Basic Medical Sciences & The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.
  • Huang Y; Department of Reproductive Genetics, Women's Hospital Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, China.
  • Zhang D; Department of Reproductive Genetics, Women's Hospital Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, China.
  • Xu Y; Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
  • Yu J; Department of Reproductive Genetics, Women's Hospital Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, China.
  • Zhang J; Center for Stem Cell and Regenerative Medicine, Department of Basic Medical Sciences & The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China. Electronic address: zhgene@zju.edu.cn.
  • Dong M; Department of Reproductive Genetics, Women's Hospital Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, China. Electronic address: dongmy@zju.edu.cn.
Stem Cell Res ; 45: 101791, 2020 05.
Article em En | MEDLINE | ID: mdl-32402715
ABSTRACT
Pelizaeus-Merzbacher disease (PMD) is a rare X-linked leukodystrophy caused by mutations in the proteolipid protein 1 gene (PLP1) which is specifically expressed on the myelin sheath of oligodendrocytes. We established an induced pluripotent stem cell (iPSC) line (ZJUi005-A) from peripheral blood mononuclear cells of an 18-year-old male PMD patient with a novel hemizygous c.437T>C mutation in PLP1 gene using episomal reprogramming plasmids. The ZJUi005-A iPSC line carried the PLP1 mutation, expressed pluripotency markers, exhibited normal karyotype and showed differentiation potential in vitro.
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Pelizaeus-Merzbacher / Células-Tronco Pluripotentes Induzidas Limite: Adolescent / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Pelizaeus-Merzbacher / Células-Tronco Pluripotentes Induzidas Limite: Adolescent / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article