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.
© 2025 The Juntendo Medical Society. This is an open access article distributed under the terms of Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original source is properly credited.
