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

Stem Cell Research (Jul 2022)

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

Affiliations

Nidaa A. Ababneh: Cell Therapy Center, The University of Jordan, Amman, Jordan; Corresponding author.
Raghda Barham: Cell Therapy Center, The University of Jordan, Amman, Jordan
Ban Al-Kurdi: Cell Therapy Center, The University of Jordan, Amman, Jordan
Dema Ali: Cell Therapy Center, The University of Jordan, Amman, Jordan
Sabal Al Hadidi: Cell Therapy Center, The University of Jordan, Amman, Jordan
Mohammad A. Ismail: Cell Therapy Center, The University of Jordan, Amman, Jordan
Ahmed S.H. Muamar: Department of Otolaryngology, School of Medicine, The University of Jordan, Amman, Jordan
Ahmed A. Abdulelah: School of Medicine, The University of Jordan, Amman, Jordan
Adan Madadha: Cell Therapy Center, The University of Jordan, Amman, Jordan
Malik Sallam: 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
Yazan Hassona: Department of Oral and Maxillofacial Surgery, Oral Medicine, and Periodontics, School of Dentistry, The University of Jordan, Amman, Jordan
Amira Masri: Department of Paediatrics, Division of Child Neurology, School of Medicine, The University of Jordan, Jordan
Abdalla Awidi: 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

Journal volume & issue: Vol. 62
p. 102786

Abstract

Read online

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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

About the journal