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.

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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

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article

Generation of two induced pluripotent stem cell lines from Charcot-Marie-Tooth type 1B patients harboring autosomal dominant mutations in myelin protein zero gene

Afrooz Rashnonejad, Wilson Marques, Michael E. Shy, Fatemeh Mehryab et al.
1 citations
Stem Cell Research
Hereditary Neurological Disorders
0.91
article

Generation of two induced pluripotent stem cell lines from Charcot-Marie-Tooth type 1B patients harboring autosomal dominant mutations in myelin protein zero gene

Afrooz Rashnonejad, Wilson Marques, Michael E. Shy, Fatemeh Mehryab, Gongbo Guo, Jingting Zhu, Mark E. Hester, Mary Kate McCulloch
article en
1 citations

Abstract

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.

Stem Cell ResearchVol. 84
University of Iowa (US), Nationwide Children's Hospital (US), Universidade de São Paulo (BR)
Nationwide Children's Hospital
Openalex Percentile: Top 31%
Hereditary Neurological Disorders
0.91
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