Establishment of an In Vitro Disease Model of Charcot-Marie-Tooth Disease using Human Induced Pluripotent Stem Cells

XING LIU; KEI-ICHI ISHIKAWA; NOBUTAKA HATTORI; WADO AKAMATSU

doi:10.14789/ejmj.JMJ24-0046-R

This article has now been updated. Please use the final version.

Establishment of an In Vitro Disease Model of Charcot-Marie-Tooth Disease using Human Induced Pluripotent Stem Cells

XING LIU, KEI-ICHI ISHIKAWA , NOBUTAKA HATTORI, WADO AKAMATSU

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Keywords: iPSC, Charcot-Marie-Tooth disease, PMP22, Schwann cell, peripheral neuropathy

JOURNAL OPEN ACCESS Advance online publication

Article ID: JMJ24-0046-R

DOI https://doi.org/10.14789/ejmj.JMJ24-0046-R

The final version of this article is now available: Vol. 71 (2025), No. 3 pp. 156-157

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Abstract

　Charcot-Marie-Tooth disease type 1A (CMT1A) is a hereditary neuropathy caused by the duplication of the PMP22 gene, leading to Schwann cell dysfunction and peripheral demyelination. We developed a Schwann cell lineage model derived from induced pluripotent stem cells (iPSCs) obtained from a CMT1A patient. This model exhibited disease-specific phenotypes, providing a valuable platform for investigating the pathophysiology of CMT1A and exploring therapeutic strategies.

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