从一名患有多灶性对称性脂肪瘤病（MSL）且MFN2基因存在纯合子Arg707Trp（c.2119C>T）突变的患者身上建立人诱导多能干细胞系JUCTCi012-A。
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.
作者信息
Ababneh Nidaa A, Ali Dema, Barham Raghda, Al-Kurdi Ban, Sharar Nour, Al Hadidi Sabal, Qanno' Omar, Ryalat Abdee T, Salah Bareqa, Awidi Abdalla
机构信息
Cell Therapy Center, the University of Jordan, Amman, Jordan.
Cell Therapy Center, the University of Jordan, Amman, Jordan.
出版信息
Stem Cell Res. 2020 Oct;48:101967. doi: 10.1016/j.scr.2020.101967. Epub 2020 Aug 31.
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.
诱导多能干细胞（iPSC）由一名39岁的患有多灶性对称性脂肪瘤病（MLS）的女性患者的皮肤成纤维细胞生成，该患者的MFN2基因存在一个点突变（c.2119C>T）。所产生的iPSC表现出典型的胚胎样形态，表达多能干细胞标志物，重编程后保留正常核型，并显示出分化为三个胚层的潜力。该iPSC系可用于研究MSL疾病机制。
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