Generation of two induced pluripotent stem cell lines from Charcot-Marie-Tooth type 1B patients harboring autosomal dominant mutations in myelin protein zero gene
Charcot-Marie-Tooth type 1B (CMT1B) is a demyelination neuropathy caused by over 200 mutations in the myelin protein zero (MPZ) gene. Here, we generated two induced pluripotent stem cell (iPSC) lines from fibroblasts isolated from the skin biopsies of CMT1B patients, each carrying a distinct MPZ mutation (Arg98Cys and Ser63del). The iPSC lines created in this work retained their respective MPZ mutation, exhibited normal karyotypes, expressed pluripotency markers, and demonstrated the ability to differentiate into three germ-layer cell types. These lines offer a valuable tool for exploring and modeling dominant CMT1B disease within a human cellular framework.
Authors
- Afrooz Rashnonejad (ORCID: https://orcid.org/0000-0002-0198-5492)
- Wilson Marques (ORCID: https://orcid.org/0000-0001-5821-4042)
- Michael E. Shy (ORCID: https://orcid.org/0000-0001-8460-6971)
- Fatemeh Mehryab (ORCID: https://orcid.org/0000-0003-3876-7592)
- Gongbo Guo
- Jingting Zhu (ORCID: https://orcid.org/0000-0001-8545-1094)
- Mark E. Hester
- Mary Kate McCulloch
Institutions
- University of Iowa (US)
- Nationwide Children's Hospital (US)
- Universidade de São Paulo (BR)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2025-02-15
- DOI
- https://doi.org/10.1016/j.scr.2025.103684
- Citations
- 1
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.91
Funders
- Nationwide Children's Hospital