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

• Published in: Stem cell research Vol. 62; p. 102786
• Main Authors: Ababneh, Nidaa A., Barham, Raghda, Al-Kurdi, Ban, Ali, Dema, Hadidi, Sabal Al, A. Ismail, Mohammad, Muamar, Ahmed S.H., Abdulelah, Ahmed A., Madadha, Adan, Sallam, Malik, Hassona, Yazan, Masri, Amira, Awidi, Abdalla
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.07.2022; Elsevier
• ISSN: 1873-5061; 1876-7753
• DOI: 10.1016/j.scr.2022.102786

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.