INDUCED PLURIPOTENT STEM CELL MODEL OF COSTELLO SYNDROME, AND USE THEREOF

摘要

The present invention relates to an induced pluripotent stem cells (iPSC) model of Costello syndrome (CS), a method for preparing the same, and a use of the iPSC model for studying a cause of the CS and a therapeutic agent screening method. More specifically, the present invention has induced the generation of iPSC derived from the CS and the differentiation of an embryoid body (EB), a mesenchymal stem cell (MSC), and osteoblasts from fibroblast cells of a patient with the CS, and iPSC and EB of the CS has expressed a multipotent marker gene and protein. As a result of differentiating the multipotent marker gene and protein with the osteoblasts, the osteoblasts show the probability of propagation, but an abnormal frame phenotype observed from a patient with the CS is effectively reproduced as the effect of bone mineralization is specifically decreased compared to normal cells. Therefore, the iPSC model can be used for studying rheobase of the CS and the therapeutic agent screening method.;COPYRIGHT KIPO 2015