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 Publisher Pubmed

Jacobs EH¹ ; Schatzman Raposo J² ; Scardamaglia A³ ; Alkuraya FS⁴ ; Nafissi S⁵ ; Houlden H³ ; Zuchner S² ; Saporta MA⁶

Source: Stem Cell Research Published:2024

Abstract

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. © 2024

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Experts (# of related papers)

Shahriar Nafissi (1)

Style	Citing Format
MLA	Jacobs EH, et al.. "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, vol. 81, no. , 2024, pp. -.
APA	Jacobs EH, Schatzman Raposo J, Scardamaglia A, Alkuraya FS, Nafissi S, Houlden H, Zuchner S, Saporta MA (2024). 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, 81(), -.
Chicago	Jacobs EH, Schatzman Raposo J, Scardamaglia A, Alkuraya FS, Nafissi S, Houlden H, Zuchner S, Saporta MA. "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 81, no. (2024): -.
Harvard	Jacobs EH et al. (2024) '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, 81(), pp. -.
Vancouver	Jacobs EH, Schatzman Raposo J, Scardamaglia A, Alkuraya FS, Nafissi S, Houlden H, et al.. 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. 2024;81():-.
BibTex	@article{ author = {Jacobs EH and Schatzman Raposo J and Scardamaglia A and Alkuraya FS and Nafissi S and Houlden H and Zuchner S and Saporta MA}, title = {Establishment and Characterization of Three Human Pluripotent Stem Cell Lines From Charcot-Marie-Tooth Disease Type 4B3 Patients Bearing Mutations in Mtmr5/Sbf1 Gene}, journal = {Stem Cell Research}, volume = {81}, number = {}, pages = {-}, year = {2024} }
RIS	TY - JOUR AU - Jacobs EH AU - Schatzman Raposo J AU - Scardamaglia A AU - Alkuraya FS AU - Nafissi S AU - Houlden H AU - Zuchner S AU - Saporta MA TI - Establishment and Characterization of Three Human Pluripotent Stem Cell Lines From Charcot-Marie-Tooth Disease Type 4B3 Patients Bearing Mutations in Mtmr5/Sbf1 Gene JO - Stem Cell Research VL - 81 IS - SP - EP - PY - 2024 ER -

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