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.

中文翻译：

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从在MFN2基因中携带纯合子Arg707Trp（c.2119C> T）突变的多发性对称脂肪瘤病（MSL）患者建立人诱导的多能干细胞系JUCTCi012-A。

诱导的多能干细胞（iPSC）从皮肤纤维母细胞中产生，该皮肤纤维母细胞来自39岁的多发性对称性脂肪瘤病（MLS）女性患者，该患者携带MFN2基因点突变（c.2119C> T）。产生的iPSC显示出典型的胚胎样形态，表达了多能干细胞标记，在重新编程后保留了正常的核型，并显示出分化为三个胚层的潜力。该iPSC品系可用于研究MSL疾病机理。