Stem Cell Research (Oct 2020)

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

  • Nidaa A. Ababneh,
  • Dema Ali,
  • Raghda Barham,
  • Ban Al-Kurdi,
  • Nour Sharar,
  • Sabal Al Hadidi,
  • Omar Qanno',
  • Abdee T. Ryalat,
  • Bareqa Salah,
  • Abdalla Awidi

Journal volume & issue
Vol. 48
p. 101967

Abstract

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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.