Related Experiment Video
Updated: Sep 9, 2025

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
Published on: January 7, 2019
Generation and characterization of a patient-derived iPSC line, CSSi022-A (15666), with a pathogenic MFN2 mutation
Angela Maria Giada Giovenale1, Ilaria Ferrone2, Silvia Tomaselli2
1Cellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, FG, Italy; Department of Biotechnology and Biosciences, University of Milano-Bicocca, Piazza della Scienza 2, 20126 Milano, Italy.
None:
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.
More Related Videos
07:33Conversion of Human Induced Pluripotent Stem Cells iPSCs into Functional Spinal and Cranial Motor Neurons Using PiggyBac Vectors
Published on: May 1, 2019
08:57Author Spotlight: Genetically Engineered Mouse Models and Pathological Characterization of Neurofibromatosis Type 1 Associated Tumors
Published on: May 17, 2024
Related Concept Videos
iPS Cell Differentiation
EPS and iPS Cells in Disease Research