Induced pluripotent stem cell model for Fabry disease and use thereof 파브리병 세포 모델링 및 이를 이용한 치료제 스크리닝 방법

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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.
Assignee
KAIST
Country
US (United States)
Issue Date
2019-05-14
Application Date
2015-08-28
Application Number
14839603
Registration Date
2019-05-14
Registration Number
10287554
URI
http://hdl.handle.net/10203/264151
Appears in Collection
BS-Patent(특허)
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