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

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.