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

Nidaa A Ababneh; Raghda Barham; Ban Al-Kurdi; Dema Ali; Sabal Al Hadidi; Mohammad A Ismail; Ahmed S H Muamar; Ahmed A Abdulelah; Adan Madadha; Malik Sallam; Yazan Hassona; Amira Masri; Abdalla Awidi

doi:10.1016/j.scr.2022.102786

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 Res. 2022 Jul:62:102786. doi: 10.1016/j.scr.2022.102786. Epub 2022 Apr 12.

Authors

Affiliations

¹ Cell Therapy Center, The University of Jordan, Amman, Jordan. Electronic address: n.ababneh@ju.edu.jo.
² Cell Therapy Center, The University of Jordan, Amman, Jordan.
³ Department of Otolaryngology, School of Medicine, The University of Jordan, Amman, Jordan.
⁴ School of Medicine, The University of Jordan, Amman, Jordan.
⁵ Department of Pathology, Microbiology and Forensic Medicine, School of Medicine, The University of Jordan, Amman, Jordan; Department of Clinical Laboratories and Forensic Medicine, Jordan University Hospital, Amman, Jordan.
⁶ Department of Oral and Maxillofacial Surgery, Oral Medicine, and Periodontics, School of Dentistry, The University of Jordan, Amman, Jordan.
⁷ Department of Paediatrics, Division of Child Neurology, School of Medicine, The University of Jordan, Jordan.
⁸ Cell Therapy Center, The University of Jordan, Amman, Jordan; Hemostasis and Thrombosis Laboratory, School of Medicine, The University of Jordan, Amman, Jordan; Department of Hematology and Oncology, Jordan University Hospital, Amman, Jordan.

PMID: 35468369
DOI: 10.1016/j.scr.2022.102786

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cell Differentiation / physiology
Charcot-Marie-Tooth Disease* / genetics
Charcot-Marie-Tooth Disease* / metabolism
GTP Phosphohydrolases / genetics
Heterozygote
Humans
Induced Pluripotent Stem Cells* / metabolism
Middle Aged
Mitochondrial Proteins / genetics
Mutation

Substances

Mitochondrial Proteins
GTP Phosphohydrolases
MFN2 protein, human

Supplementary concepts

Charcot-Marie-Tooth Disease, Axonal, Type 2A2