Charcot-Marie-Tooth disease type 2A (CMT2A; OMIM 609260) is a rare sensorimotor neuropathy caused by mutations in the MFN2 gene (1p36.22). We successfully reprogrammed fibroblasts from an 8-year-old girl carrying a de novo MFN2 mutation into induced pluripotent stem cells using non-integrative vectors. The line shows normal karyotype, pluripotency, and trilineage differentiation, providing a valuable in vitro model to study disease mechanisms.
Giovenale, A., Ferrone, I., Tomaselli, S., Mazzoni, M., Ruotolo, G., Turco, E., et al. (2025). Generation and characterization of a patient-derived iPSC line, CSSi022-A (15666), with a pathogenic MFN2 mutation causing Charcot-Marie-Tooth disease type 2A. STEM CELL RESEARCH, 88(October 2025) [10.1016/j.scr.2025.103817].
Generation and characterization of a patient-derived iPSC line, CSSi022-A (15666), with a pathogenic MFN2 mutation causing Charcot-Marie-Tooth disease type 2A
Giovenale, Angela Maria Giada;Tomaselli, Silvia;Ruotolo, Giorgia;Vulcano, Edvige;Ferrari, Daniela;Rosati, Jessica
2025
Abstract
Charcot-Marie-Tooth disease type 2A (CMT2A; OMIM 609260) is a rare sensorimotor neuropathy caused by mutations in the MFN2 gene (1p36.22). We successfully reprogrammed fibroblasts from an 8-year-old girl carrying a de novo MFN2 mutation into induced pluripotent stem cells using non-integrative vectors. The line shows normal karyotype, pluripotency, and trilineage differentiation, providing a valuable in vitro model to study disease mechanisms.
| File | Dimensione | Formato | |
|---|---|---|---|
|
Giovenale-2025-Stem cell-AAM.pdf
Solo gestori archivio
Tipologia di allegato:
Author’s Accepted Manuscript, AAM (Post-print)
Licenza:
Tutti i diritti riservati
Dimensione
1.42 MB
Formato
Adobe PDF
|
1.42 MB | Adobe PDF | Visualizza/Apri Richiedi una copia |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
