Establishment of a human induced pluripotent stem cell line, JUCTCi012-A, from multiple symmetric lipomatosis (MSL) patient carrying a homozygous Arg707Trp (c.2119C > T) mutation in the MFN2 gene


Induced pluripotent stem cells (iPSCs) were generated from skin fibroblasts collected from a 39-year-old multiple symmetric lipomatosis (MLS) female patient carrying a point mutation in MFN2 gene (c.2119C > T). The resulting iPSCs showed typical embryonic-like morphology, expressed pluripotency stem cell markers, retained the normal karyotype after reprogramming and showed the potential to differentiate into three germ layers. This iPSC line can be used for studying MSL disease mechanisms. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Ababneh NA, Ali D, Barham R, Al-Kurdi B, Sharar N, Al Hadidi S, Qanno' O, Ryalat AT, Salah B, Awidi A
Journal Stem cell research
Publication Date 2020 Oct;48:101967
PubMed 32916636
DOI 10.1016/j.scr.2020.101967

Research Projects

Cell Lines