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ENDONUCLEASE TARGETING BLOOD COAGULATION FACTOR VIII GENE AND COMPOSITION FOR TREATING HEMOPHILIA COMPRISING SAME
专利权人:
INDUSTRY-ACADEMIC COOPERATION FOUNDATION, YONSEI UNIVERSITY;INSTITUTE FOR BASIC SCIENCE
发明人:
Dong Wook KIM,Jin Soo KIM,Chul Yong PARK,Duk Hyoung KIM,Jung Eun KIM,Jiyeon KWEON
申请号:
US15807850
公开号:
US20180055951A1
申请日:
2017.11.09
申请国别(地区):
US
年份:
2018
代理人:
摘要:
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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中国工程科技知识中心
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