公开(公告)号：US11185596B2

公开(公告)日：2021-11-30

申请号：US15541784

申请日：2016-01-06

Applicant: INDUSTRY-ACADEMIC COOPERATION FOUNDATION, YONSEI UNIVERSITY ,  INSTITUTE FOR BASIC SCIENCE

Inventor： Dong Wook Kim ,  Jin Soo Kim ,  Chul Yong Park ,  Duk Hyoung Kim ,  Jung Eun Kim ,  Jiyeon Kweon

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.

公开(公告)号：US20190153530A1

公开(公告)日：2019-05-23

申请号：US15526528

申请日：2015-11-13

Applicant: INSTITUTE FOR BASIC SCIENCE

Inventor： Jin Soo Kim ,  Dae Sik Kim ,  Sang Su Bae

IPC: C12Q1/6874 ,  C12N9/22 ,  C12Q1/6806 ,  C12Q1/686

Abstract: The present disclosure relates to a method for detecting off-target sites of a programmable nuclease in a genome, and specifically, to a method for detecting off-target sites through data analysis by subjecting the genome isolated in vitro to programmable nucleases to cleave the genome and then performing whole genome sequencing or deep sequencing, and to a method for selecting on-target sites of a programmable nuclease, which minimizes the off-target effect, using this method. The Digenome-seq of the present disclosure can detect the off-target sites of a programmable nuclease on the genomic scale at a high degree of reproducibility, and thus can be used in the manufacture of programmable nucleases having high target specificity and the study thereof.