Generation and characterization of a patient-derived iPSC line, CSSi022-A (15666), with a pathogenic MFN2 mutation causing Charcot-Marie-Tooth disease type 2A
Summary
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. Copyright © 2025 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Giovenale AMG, Ferrone I, Tomaselli S, Mazzoni M, Ruotolo G, Turco EM, Torres B, De Luca A, Zanfardino P, Vulcano E, Ferrari D, Damiani D, Santorelli FM, Pennuto M, Vescovi AL, Petruzzella V, Rosati J |
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| Journal | Stem cell research |
| Publication Date | 2025 Aug 23;88:103817 |
| PubMed | 40886547 |
| DOI | 10.1016/j.scr.2025.103817 |