Invention Grant
- Patent Title: Induced pluripotent stem cell model for cardiofaciocutaneous syndrome and uses thereof
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Application No.: US15103271Application Date: 2013-12-11
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Publication No.: US10174288B2Publication Date: 2019-01-08
- Inventor: Yong-Mahn Han , Kyu-Min Han
- Applicant: Korea Advanced Institute of Science and Technology
- Applicant Address: KR Daejeon
- Assignee: Korea Advanced Institute of Science and Technology
- Current Assignee: Korea Advanced Institute of Science and Technology
- Current Assignee Address: KR Daejeon
- Agency: Leydig, Voit & Mayer, Ltd.
- Priority: KR10-2013-0153569 20131211
- International Application: PCT/KR2013/011484 WO 20131211
- International Announcement: WO2015/088073 WO 20150618
- Main IPC: C12N5/00
- IPC: C12N5/00 ; C12N5/02 ; C12Q1/68 ; C12N5/074 ; G01N33/50 ; C12Q1/6881 ; C12Q1/6883 ; C12N5/079

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.
Public/Granted literature
- US20160355788A1 Induced Pluripotent Stem Cell Model for Cardiofaciocutaneous Syndrome and Uses Thereof Public/Granted day:2016-12-08
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