首页> 外文期刊>Stem cell research >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
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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

机译:从MFN2基因中携带纯合arg707TRP(C.119C?>ΔT)突变的多重对称脂质病(MSL)患者的多能干细胞系,来自多能干多能干细胞系的JUCTCIO12-A,患者

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摘要

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.
机译:诱导多能干细胞(IPSC)由从39岁的多重对称脂质病(MLS)女性患者中收集的皮肤成纤维细胞产生,携带MFN2基因中的点突变(C.2119C?>ΔT)。得到的IPSCs显示出典型的胚胎形态,表达多能性干细胞标记物,在重编程后保留正常的核型,并显示出分为三种胚层的可能性。该IPSC线可用于研究MSL病理机制。

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