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September 10, 2025Stem Cell ResearchOpen Access

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

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Authors

AGAngela Maria Giada GiovenaleIFIlaria FerroneSTSimona Tomaselli

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Overview

Characterization reveals disease mechanisms in charcot-marie-tooth disease type 2A, highlighting the role of the mfn2 mutation.

Key Points

  • The patient-derived iPSC line shows trilineage differentiation, validating its use for modeling charcot-marie-tooth disease.
  • The line was generated from fibroblasts of a girl with a de novo mfn2 mutation, showing a normal karyotype.
  • Induced pluripotent stem cells were created using non-integrative vectors for studying disease mechanisms.
  • This in vitro model may aid in understanding the neuropathy associated with the mfn2 mutation, opening avenues for future therapies.

Cite This Study

Giovenale et al. (2025) studied this question.

synapsesocial.com/papers/68c1d02c54b1d3bfb60f6a47https://doi.org/10.1016/j.scr.2025.103817
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Advances and challenges in modeling Charcot-Marie-Tooth type 2A using iPSC-derived models2025
  2. 2Establishing a human-induced pluripotent stem cell line (SMUSHi003-A) from a patient with Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis2024
  3. 3Generation of one induced pluripotent stem cell line JUCGRMi004-A from a Charcot-Marie-Tooth disease type 1A (CMT1A) patient with PMP22 duplication2024 · 1 citations
  4. 4Gene therapy-mediated overexpression of wild-type MFN2 improves Charcot-Marie-Tooth disease type 2A2025
  5. 5De Novo <scp>MFN2</scp> p. <scp>Arg95Met</scp> in Severe Charcot‐Marie‐Tooth Disease Type <scp>2A</scp>2026