2. Academic Validation
  3. Human induced pluripotent stem cell line (FDHSi005-A) derived from a patient with a deep intronic variant in the GNE gene

Human induced pluripotent stem cell line (FDHSi005-A) derived from a patient with a deep intronic variant in the GNE gene

  • Stem Cell Res. 2024 Sep 14:81:103562. doi: 10.1016/j.scr.2024.103562.
Kexin Jiao 1,  Jialong Zhang 1,  Ningning Wang 1,  Xingyu Gu 1,  Xuechun Chang 2,  Xingyu Xia 1,  Bochen Zhu 1,  Mingshi Gao 1,  Nachuan Cheng 1,  Chongbo Zhao 1,  Jianying Xi 1,  Wenhua Zhu 3
Affiliations

Affiliations

  • 1 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.
  • 2 Department of Integrative Biology and Physiology, University of Minnesota Medical School, Minneapolis, MI 55455, USA.
  • 3 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: whzhu@fudan.edu.cn.
PMID: 39303320 DOI: 10.1016/j.scr.2024.103562
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.

Keywords

GNE myopathy; deep intronic variant; iPSC.

Figures
Products