Article
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.
Stem cell research - 1 Oct 2020
Ababneh Nidaa A, Ali Dema, Barham Raghda, Al-Kurdi Ban, Sharar Nour, Al Hadidi Sabal, Qanno' Omar, Ryalat Abdee T, Salah Bareqa, Awidi Abdalla
Abstract excerpt
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...
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