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Establishment and characterization of three human pluripotent stem cell lines from Charcot-Marie-Tooth disease Type 4B3 patients bearing mutations in MTMR5/Sbf1 gene.

Stem cell research - 1 Dec 2024

Jacobs Elizabeth H, Schatzman Raposo Jacquelyn, Scardamaglia Annarita, Alkuraya Fowzan S, Nafissi Shahriar, Houlden Henry, Zuchner Stephan, Saporta Mario A

Abstract excerpt

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...

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PMID: 39461113
DOI: 10.1016/j.scr.2024.103599

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