Establishment of (JUCTCi007-A) iPSC line from a patient with congenital myasthenic syndrome (CMS) carrying a homozygous mutation p.Arg331Trp (c.991C > T) in the CHRNE gene

Nidaa A Ababneh; Ban Al-Kurdi; Dema Ali; Duaa Abuarqoub; Raghda Barham; Abdee T Ryalat; Abdalla Awidi

doi:10.1016/j.scr.2020.101906

Establishment of (JUCTCi007-A) iPSC line from a patient with congenital myasthenic syndrome (CMS) carrying a homozygous mutation p.Arg331Trp (c.991C > T) in the CHRNE gene

Stem Cell Res. 2020 Jul 3:47:101906. doi: 10.1016/j.scr.2020.101906. Online ahead of print.

Authors

Nidaa A Ababneh¹, Ban Al-Kurdi², Dema Ali², Duaa Abuarqoub³, Raghda Barham², Abdee T Ryalat⁴, Abdalla Awidi⁵

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 Pharmacology and Biomedical Sciences, Faculty of Pharmacy and Medical Sciences, University of Petra, Amman, Jordan.
⁴ King Hussein Cancer Center, Amman, Jordan.
⁵ 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: 32645605
DOI: 10.1016/j.scr.2020.101906

Abstract

Induced pluripotent stem cells (iPSCs) were generated from skin fibroblasts obtained from a 24-year-old female diagnosed with hereditary congenital myasthenic syndrome (CMS), caused by p.Arg331Trp (c.991C > T) homozygous mutation in the gene coding for the epsilon subunit of the acetylcholine receptor (CHRNE). The generated iPSCs shared similar karyotype with the parental dermal fibroblast cells, expressed pluripotency stem cell markers, and demonstrated differentiation potential into the three germ layers. This cell line can be used as an ideal model to facilitate the understanding of the pathogenic disease mechanisms underlying the congenital myasthenic syndrome and for developing novel therapeutic strategies.