Establishment and characterization of three human pluripotent stem cell lines from Charcot-Marie-Tooth disease Type 4B3 patients bearing mutations in MTMR5/Sbf1 gene
Summary
Myotubularin-Related Protein 5 (MTMR5) is an inactive, poorly characterized D3-phosphatidylinositol phosphatase. Mutations in MTMR5 have been linked to Charcot-Marie-Tooth Disease Type 4B3 (CMT4B3), a rare, early-onset, recessive peripheral neuropathy. Here, we describe the establishment and validation of three human induced pluripotent stem cell (iPSC) lines derived from unrelated CMT4B3 patients, each harboring homozygous MTMR5/Sbf1 mutations. Current MTMR5 -/- animal models do not clearly link Sbf1 mutations to severe neuropathy, so such a resource is highly desired to further elucidate the relationship between MTMR5 dysfunction and peripheral nerve degeneration. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Jacobs EH, Schatzman Raposo J, Scardamaglia A, Alkuraya FS, Nafissi S, Houlden H, Zuchner S, Saporta MA |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Dec;81:103599 |
| PubMed | 39461113 |
| PubMed Central | PMC11791841 |
| DOI | 10.1016/j.scr.2024.103599 |