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

利用人诱导多能干细胞建立夏科-马里-图斯病体外疾病模型

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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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