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Establishment of a human induced pluripotent stem cell (iPSC) line (JUCTCi018-A) from a patient with Charcot-Marie-Tooth disease type 2EE (CMT2EE) due to a homozygous c.122G > A p.(Arg41Gln) mutation in the MPV17 gene.
A Ababneh N, Barham R, Al-Kurdi B, Al Hadidi S, Ali D, Abdulelah AA, Madadha A, Masri A, Awidi A. A Ababneh N, et al. Among authors: madadha a. Stem Cell Res. 2024 Dec;81:103602. doi: 10.1016/j.scr.2024.103602. Epub 2024 Oct 22. Stem Cell Res. 2024. PMID: 39461114 Free article.
Generation of a human induced pluripotent stem cell (iPSC) line (JUCTCi019-A) from a patient with Charcot-Marie-Tooth disease type 2A2 (CMT2A2) due to a heterozygous missense substitution c.2119C > T (p.Arg707Trp) in MFN2 gene.
Ababneh NA, Barham R, Al-Kurdi B, Ali D, Hadidi SA, A Ismail M, Muamar ASH, Abdulelah AA, Madadha A, Sallam M, Hassona Y, Masri A, Awidi A. Ababneh NA, et al. Among authors: madadha a. Stem Cell Res. 2022 Jul;62:102786. doi: 10.1016/j.scr.2022.102786. Epub 2022 Apr 12. Stem Cell Res. 2022. PMID: 35468369 Free article.