CRISPR/Cas9‐mediated somatic correction of a novel coagulator factor IX gene mutation ameliorates hemophilia in mouse

• Published in: EMBO molecular medicine Vol. 8; no. 5; pp. 477 - 488
• Main Authors: Guan, Yuting, Ma, Yanlin, Li, Qi, Sun, Zhenliang, Ma, Lie, Wu, Lijuan, Wang, Liren, Zeng, Li, Shao, Yanjiao, Chen, Yuting, Ma, Ning, Lu, Wenqing, Hu, Kewen, Han, Honghui, Yu, Yanhong, Huang, Yuanhua, Liu, Mingyao, Li, Dali
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 01.05.2016; EMBO Press; John Wiley and Sons Inc; Springer Nature
• Subjects: Adenoviridae - genetics; Animal models; Animals; Child; Coagulation factors; CRISPR; CRISPR-Cas Systems; Deoxyribonucleic acid; Disease; Disease Models, Animal; DNA; EMBO16; EMBO18; Expression vectors; Factor IX - genetics; Factor IX deficiency; Gene Editing - methods; Gene loci; Gene therapy; Genetic disorders; Genetic Therapy - methods; Genetic Vectors; Genome editing; Genomes; Hemophilia; hemophilia B; Hemophilia B - pathology; Hemophilia B - therapy; Hemostasis; Hepatocytes; Hereditary diseases; Humans; Male; Males; Mice; monogenetic disease; Mutation; Mutation, Missense; Phenotypes; Point mutation; Recombination, Genetic; Research Article; Toxicity; Treatment Outcome; Twins; Mali; China; genome editing; gene therapy; monogenetic disease; hemostasis; hemophilia B

The X‐linked genetic bleeding disorder caused by deficiency of coagulator factor IX, hemophilia B, is a disease ideally suited for gene therapy with genome editing technology. Here, we identify a family with hemophilia B carrying a novel mutation, Y371D, in the human F9 gene. The CRISPR/Cas9 system...