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

Jingting Zhu; Gongbo Guo; Fatemeh Mehryab; Mary Kate McCulloch; Wilson Marques Junior; Michael E. Shy; Mark E. Hester; Afrooz Rashnonejad

doi:10.1016/j.scr.2025.103684

Back

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

Journal article

Open access

Peer reviewed

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

Jingting Zhu, Gongbo Guo, Fatemeh Mehryab, Mary Kate McCulloch, Wilson Marques Junior, Michael E. Shy, Mark E. Hester and Afrooz Rashnonejad

Stem cell research, Vol.84, 103684

04/2025

DOI: 10.1016/j.scr.2025.103684

PMID: 39986019

Files and links (1)

url

https://doi.org/10.1016/j.scr.2025.103684View

Published (Version of record) Open Access

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.

Details

Title: Subtitle: Generation of two induced pluripotent stem cell lines from Charcot-Marie-Tooth type 1B patients harboring autosomal dominant mutations in myelin protein zero gene
Creators: Jingting Zhu - Nationwide Children's Hospital
Gongbo Guo - Nationwide Children's Hospital
Fatemeh Mehryab - Nationwide Children's Hospital
Mary Kate McCulloch - Nationwide Children's Hospital
Wilson Marques Junior - Universidade de São Paulo
Michael E. Shy - University of Iowa
Mark E. Hester - Nationwide Children's Hospital
Afrooz Rashnonejad - Nationwide Children's Hospital
Resource Type: Journal article
Publication Details: Stem cell research, Vol.84, 103684
DOI: 10.1016/j.scr.2025.103684
PMID: 39986019
NLM abbreviation: Stem Cell Res
ISSN: 1873-5061
eISSN: 1876-7753
Publisher: Elsevier B.V
Grant note: Nationwide Children's Hospital
This work was supported by Start-up funding from Nationwide Children's Hospital to Dr. Rashnonejad.
Language: English
Electronic publication date: 02/15/2025
Date published: 04/2025
Academic Unit: Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
Record Identifier: 9984792367402771

Metrics

9 Record Views