Generation of an mESC model with a human hemophilia B nonsense mutation via CRISPR/Cas9 technology.

ABSTRACT:

Background

Hemophilia B is a rare inherited genetic bleeding disorder caused by a deficiency or lack of coagulation factor IX, the gene for which (F9) is located on the X chromosome. Hemophilia B is currently incurable and the standard treatment is coagulation factor replacement therapy. Although gene therapy has the potential to cure hemophilia, significant barriers are still needed to be overcome, e.g., off-target effects and immunoreactivity, so new approaches must be explored. Nonsense mutations account for 8% of all the hemophilia B mutation types and can result in the development of coagulation factor inhibitors. In this study, CRISPR/Cas9 technology was used to construct a mouse embryonic stem cell model with a hemophilia B nonsense mutation (F9 c.223C > T) in humans to inve

SUBMITTER: Ma Y 

PROVIDER: S-EPMC9327398 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature