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.
Stem cell research - 1 Jul 2022
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
Abstract excerpt
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...
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