公开(公告)号：US20160355788A1

公开(公告)日：2016-12-08

申请号：US15103271

申请日：2013-12-11

Applicant: Korea Advanced Institute of Science and Technology

Inventor： Yong-Mahn HAN ,  Kyu-Min HAN

IPC: C12N5/074 ,  C12Q1/68 ,  G01N33/50

CPC classification number: C12N5/0696 ,  C12N5/0618 ,  C12N2503/00 ,  C12N2506/45 ,  C12Q1/6881 ,  C12Q1/6883 ,  C12Q2600/158 ,  G01N33/5073

Abstract: 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.

Abstract translation: 本发明涉及用于心脏皮下（CFC）综合征的诱导多能干细胞（iPS）模型，该模型的制备方法以及iPS模型在CFC综合征神经发育分析中的应用。 具体来说，从CFC综合征患者的成纤维细胞诱导了来自CFC综合征的iPS和胚胎体的产生和分化，并且证实了来自CFC综合征的iPS和胚胎体表现出破碎的胚胎体形状，并且没有分化成神经元 。 当通过用p-ERK和p-SMAD1抑制剂处理诱导CFC综合征衍生的胚胎体时，胚体表现出正常的胚胎体形状并有效地分化为神经元。 因此，本发明的CFC综合征患者来源的干细胞模型可以有效地用于心脏皮肤综合征神经发育的研究。