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Article

Advances and challenges in modeling Charcot-Marie-Tooth type 2A using iPSC-derived models.

Stem cell reports - 9 Dec 2025

Rizzuti Mafalda, Pagliari Elisa, D'Agostino Martina, Ottoboni Linda, Parente Valeria, Comi Giacomo Pietro, Corti Stefania, Rizzo Federica, Abati Elena

Abstract excerpt

Charcot-Marie-Tooth type 2A (CMT2A) is an inherited sensory-motor axonopathy caused by mutations in the Mitofusin2 (MFN2) gene, coding for MFN2 protein. No curative treatment has been developed to date. The advent of induced pluripotent stem cell (iPSC) has provided unprecedented opportunities to understand complex neurological disorders. In CMT2A research, patient-specific iPSCs can be differentiated in motor...

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Identifiers

PMID: 41237781
DOI: 10.1016/j.stemcr.2025.102711
PMCID: PMC12744850

Genes

MFN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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