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

建立人类诱导性多能干细胞系 JUCTCi012-A,该细胞来自携带 MFN2 基因纯合 Arg707Trp(c.2119C > T)突变的多发性对称性脂肪瘤病 (MSL) 患者

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

Abstract

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.

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