Invention Grant
- Patent Title: Endonuclease targeting blood coagulation factor VIII gene and composition for treating hemophilia comprising same
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Application No.: US15541784Application Date: 2016-01-06
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Publication No.: US11185596B2Publication Date: 2021-11-30
- Inventor: Dong Wook Kim , Jin Soo Kim , Chul Yong Park , Duk Hyoung Kim , Jung Eun Kim , Jiyeon Kweon
- Applicant: INDUSTRY-ACADEMIC COOPERATION FOUNDATION, YONSEI UNIVERSITY , INSTITUTE FOR BASIC SCIENCE
- Applicant Address: KR Seoul; KR Daejeon
- Assignee: INDUSTRY-ACADEMIC COOPERATION FOUNDATION, YONSEI UNIVERSITY,INSTITUTE FOR BASIC SCIENCE
- Current Assignee: INDUSTRY-ACADEMIC COOPERATION FOUNDATION, YONSEI UNIVERSITY,INSTITUTE FOR BASIC SCIENCE
- Current Assignee Address: KR Seoul; KR Daejeon
- Agency: Harness, Dickey & Pierce, PLC
- Priority: KR10-2015-0001391 20150106,KR10-2015-0001392 20150106
- International Application: PCT/KR2016/000101 WO 20160106
- International Announcement: WO2016/111546 WO 20160714
- Main IPC: A61K48/00
- IPC: A61K48/00 ; A61K35/54 ; C12N5/074 ; C12N15/11 ; C12N9/22 ; C07K14/755 ; C12N15/113 ; A61K35/12 ; A61K35/545

Abstract:
The present invention provides a method for inducing an inversion of normal blood coagulation factor VIII (F8) gene, a method for correcting an inversion of blood coagulation factor VIII gene in which the inversion has occurred, and a Hemophilia A patient-derived induced pluripotent stem cell in which the inversion is corrected, constructed using the same. The method of the present invention effectively reproduces the inversion of intron 1 and intron 22 of the F8 gene, which is responsible for the majority of severe hemophilia A, and thereby may be effectively used for studying the development mechanism of hemophilia A and as a research tool for screening therapeutic agents. The inversion-corrected induced pluripotent stem cell constructed according the method of the present invention enables an efficient and fundamental treatment for hemophilia A by restoring a genotype in which mutation has occurred to a wild type-like state, without limitation via normal gene or protein delivery.
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