Invention Grant
- Patent Title: Induced pluripotent stem cell model for Fabry disease and use thereof
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Application No.: US14839603Application Date: 2015-08-28
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Publication No.: US10287554B2Publication Date: 2019-05-14
- Inventor: Yong-mahn Han , Sang-Wook Park
- 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: Klarquist Sparkman, LLP
- Priority: KR10-2013-0160920 20131223
- Main IPC: C12N5/074
- IPC: C12N5/074 ; G01N33/50

Abstract:
The present invention relates to an induced pluripotent stem cell model of Fabry disease, a preparation method thereof, and a use of the same for the study of Fabry disease development and for the screening of a therapeutic agent for the disease. Particularly, Fabry disease derived induced pluripotent stem cells (iPSCs), embryoid body (EB), and vascular cells were developed and differentiated from fibroblasts originated from Fabry disease patient, wherein the Fabry disease originated iPSCs displayed significantly reduced expression and activity of GLA protein therein, compared with the normal cells, resulting in the accumulation of globotriaosylceramide (Gb3, CD77). Also, the differentiation of vascular cells was induced from the Fabry disease originated iPSCs, and as a result the iPSCs were successfully differentiated into vascular endothelial cells and vascular smooth muscle cells with significantly expressing the marker protein. When the vascular endothelial cells and vascular smooth muscle cells were treated with Fabrazyme, the accumulation of Gb3 was significantly reduced, suggesting that the said cell model can be effectively used for the analysis/study of Fabry disease outbreak mechanism and for the screening of a therapeutic agent for the disease.
Public/Granted literature
- US20150361401A1 INDUCED PLURIPOTENT STEM CELL MODEL FOR FABRY DISEASE AND USE THEREOF Public/Granted day:2015-12-17
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