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Induced Pluripotent Stem Cell Model for Cardiofaciocutaneous Syndrome and Uses Thereof
Induced Pluripotent Stem Cell Model for Cardiofaciocutaneous Syndrome and Uses Thereof
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机译:诱导的心血管干性皮肤综合征多能干细胞模型及其用途
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摘要
The present invention relates to an induced pluripotent stem cell (iPS) model for cardiofaciocutaneous (CFC) syndrome, a method for producing the model, and uses of the iPS model in the analysis of neural development in CFC syndrome. Specifically, the CFC syndrome-derived iPS and generation and differentiation of an embryonic body were induced from the fibroblasts of a CFC syndrome patient, and the CFC syndrome-derived iPS and embryonic body were confirmed to exhibit broken embryonic body shapes and no differentiation into neurons. When a CFC syndrome-derived embryonic body was induced by treating with p-ERK and p-SMAD1 inhibitors, the embryonic body exhibited a normal embryonic body shape and effectively differentiated into neurons. Thus, the CFC syndrome patient-derived stem cell model of the invention can be effectively used in the research for neural development in cardiofaciocutaneous syndrome.
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