{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["9(1)"],"submitter":["Chen H"],"pubmed_abstract":["Hemophilia A is a monogenic disease with a blood clotting factor VIII (FVIII) deficiency caused by mutation in the factor VIII (F8) gene. Current and emerging treatments such as FVIII protein injection and gene therapies via AAV-delivered F8 transgene in an episome are costly and nonpermanent. Here, we describe a CRISPR/Cas9-based in vivo genome editing method, combined with non-homologous end joining, enabling permanent chromosomal integration of a modified human B domain deleted-F8 (BDD-F8) at the albumin (Alb) locus in liver cells. To test the approach in mice, C57BL/6 mice received tail vein injections of two vectors, AAV8-SaCas9-gRNA, targeting Alb intron 13, and AAV8-BDD-F8. This resulted in BDD-F8 insertion at the Alb locus and FVIII protein expression in the liver of vector-, but n"],"journal":["Scientific reports"],"pagination":["16838"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6856096"],"repository":["biostudies-literature"],"pubmed_title":["Hemophilia A ameliorated in mice by CRISPR-based in vivo genome editing of human Factor VIII."],"pmcid":["PMC6856096"],"pubmed_authors":["Gilam A","Shi M","Li J","Afrikanova I","Gluzman Z","Zhang Y","Jiang R","Zheng Q","Chen H","Kong LJ","Chen-Tsai RY"],"additional_accession":[]},"is_claimable":false,"name":"Hemophilia A ameliorated in mice by CRISPR-based in vivo genome editing of human Factor VIII.","description":"Hemophilia A is a monogenic disease with a blood clotting factor VIII (FVIII) deficiency caused by mutation in the factor VIII (F8) gene. Current and emerging treatments such as FVIII protein injection and gene therapies via AAV-delivered F8 transgene in an episome are costly and nonpermanent. Here, we describe a CRISPR/Cas9-based in vivo genome editing method, combined with non-homologous end joining, enabling permanent chromosomal integration of a modified human B domain deleted-F8 (BDD-F8) at the albumin (Alb) locus in liver cells. To test the approach in mice, C57BL/6 mice received tail vein injections of two vectors, AAV8-SaCas9-gRNA, targeting Alb intron 13, and AAV8-BDD-F8. This resulted in BDD-F8 insertion at the Alb locus and FVIII protein expression in the liver of vector-, but n","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019 Nov","modification":"2025-04-19T09:52:54.525Z","creation":"2020-05-21T19:13:08Z"},"accession":"S-EPMC6856096","cross_references":{"pubmed":["31727959"],"doi":["10.1038/s41598-019-53198-y"]}}