Generation and characterization of a patient-derived iPSC line, CSSi022-A (15666), with a pathogenic MFN2 mutation causing Charcot-Marie-Tooth disease type 2A

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 vecto...

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Bibliographic Details

Published in:	Stem Cell Research
Main Authors:	Angela Maria Giada Giovenale, Ilaria Ferrone, Silvia Tomaselli, Martina Mazzoni, Giorgia Ruotolo, Elisa Maria Turco, Barbara Torres, Alessandro De Luca, Paola Zanfardino, Edvige Vulcano, Daniela Ferrari, Devid Damiani, Filippo M. Santorelli, Maria Pennuto, Angelo Luigi Vescovi, Vittoria Petruzzella, Jessica Rosati
Format:	Article
Language:	English
Published:	Elsevier 2025-10-01
Online Access:	http://www.sciencedirect.com/science/article/pii/S1873506125001679