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

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

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 validat...

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Bibliographic Details
Main Authors: Elizabeth H. Jacobs, Jacquelyn Schatzman Raposo, Annarita Scardamaglia, Fowzan S. Alkuraya, Shahriar Nafissi, Henry Houlden, Stephan Zuchner, Mario A. Saporta
Format: Article
Language:English
Published: Elsevier 2024-12-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506124002976

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http://www.sciencedirect.com/science/article/pii/S1873506124002976

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