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Human induced pluripotent stem cell line (FDHSi005-A) derived from a patient with a deep intronic variant in the GNE gene.
Jiao, Kexin; Zhang, Jialong; Wang, Ningning; Gu, Xingyu; Chang, Xuechun; Xia, Xingyu; Zhu, Bochen; Gao, Mingshi; Cheng, Nachuan; Zhao, Chongbo; Xi, Jianying; Zhu, Wenhua.
Afiliação
  • Jiao K; Department of Neurology, Huashan Hospital Fudan University, No.12 Middle Wulumuqi Road, Shanghai, China; National Center for Neurological Disorders (NCND), Shanghai, China; Huashan Rare Disease Center, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China.
  • Zhang J; Department of Neurology, Huashan Hospital Fudan University, No.12 Middle Wulumuqi Road, Shanghai, China; National Center for Neurological Disorders (NCND), Shanghai, China; Huashan Rare Disease Center, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China.
  • Wang N; Department of Neurology, Huashan Hospital Fudan University, No.12 Middle Wulumuqi Road, Shanghai, China; National Center for Neurological Disorders (NCND), Shanghai, China; Huashan Rare Disease Center, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China.
  • Gu X; Department of Neurology, Huashan Hospital Fudan University, No.12 Middle Wulumuqi Road, Shanghai, China; National Center for Neurological Disorders (NCND), Shanghai, China; Huashan Rare Disease Center, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China.
  • Chang X; Department of Integrative Biology and Physiology, University of Minnesota Medical School, Minneapolis, MI 55455, USA.
  • Xia X; Department of Neurology, Huashan Hospital Fudan University, No.12 Middle Wulumuqi Road, Shanghai, China; National Center for Neurological Disorders (NCND), Shanghai, China; Huashan Rare Disease Center, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China.
  • Zhu B; Department of Neurology, Huashan Hospital Fudan University, No.12 Middle Wulumuqi Road, Shanghai, China; National Center for Neurological Disorders (NCND), Shanghai, China; Huashan Rare Disease Center, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China.
  • Gao M; Department of Neurology, Huashan Hospital Fudan University, No.12 Middle Wulumuqi Road, Shanghai, China; National Center for Neurological Disorders (NCND), Shanghai, China; Huashan Rare Disease Center, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China.
  • Cheng N; Department of Neurology, Huashan Hospital Fudan University, No.12 Middle Wulumuqi Road, Shanghai, China; National Center for Neurological Disorders (NCND), Shanghai, China; Huashan Rare Disease Center, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China.
  • Zhao C; Department of Neurology, Huashan Hospital Fudan University, No.12 Middle Wulumuqi Road, Shanghai, China; National Center for Neurological Disorders (NCND), Shanghai, China; Huashan Rare Disease Center, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China.
  • Xi J; Department of Neurology, Huashan Hospital Fudan University, No.12 Middle Wulumuqi Road, Shanghai, China; National Center for Neurological Disorders (NCND), Shanghai, China; Huashan Rare Disease Center, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China.
  • Zhu W; Department of Neurology, Huashan Hospital Fudan University, No.12 Middle Wulumuqi Road, Shanghai, China; National Center for Neurological Disorders (NCND), Shanghai, China; Huashan Rare Disease Center, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China. Electronic address:
Stem Cell Res ; 81: 103562, 2024 Sep 14.
Article em En | MEDLINE | ID: mdl-39303320
ABSTRACT
GlcNAc2-epimerase myopathy is a rare autosomal recessive myopathy characterized by distal involvement in the lower extremities. Our study reprogrammed human-induced pluripotent stem cells from peripheral blood mononuclear cells of a patient with GNE gene deep intronic variant c.862 + 870C>T and c.478C>T compound heterozygous mutations that co-segregated with the disease. The generated iPSCs express pluripotent cell markers with no mycoplasma contamination. Additionally, these iPSCs demonstrated pluripotency, the capacity to differentiate into the three germ layers, and maintained normal karyotypes. Importantly, we identified that these iPSCs possess the same specific mutations as the patient, making them a robust model for studying GNE myopathy and developing potential therapeutic interventions.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article