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

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

Ngôn ngữ: eng

Ký hiệu phân loại: 641.8659 Cooking specific kinds of dishes, preparing beverages

Thông tin xuất bản: England : Stem cell research , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 551916

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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