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
Summary
Charcot-Marie-Tooth disease (CMT) is an inherited neurological disorder characterized by the progressive damage of the peripheral nerves. We generated a human induced pluripotent stem cell (iPSC) line JUCTCi019-A using dermal fibroblasts-derived from a 50-year-old CMT2A2 patient carrying a heterozygous missense substitution c.2119C > T (p.Arg707Trp) in the MFN2 gene. Fibroblasts were reprogrammed by Sendai viruses encoding for the reprogramming factors: OCT4, SOX2, KLF4 and c-MYC. Characterization showed normal iPSC morphology and karyotype, expression of pluripotency markers and differentiation into three-germ layers. This iPSC line represents an ideal source for disease modelling and drug development of CMT2A2 disease. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | 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 |
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| Journal | Stem cell research |
| Publication Date | 2022 Jul;62:102786 |
| PubMed | 35468369 |
| DOI | 10.1016/j.scr.2022.102786 |