Alpha1 antitrypsin deficiency is the most common cause of hereditary liver disease, however, only about 10% of patients with the mutation develop liver disease. The mechanism for why certain patients develop liver disease remains poorly understood. Using hiPS cells we will correct the Z AAT mutation using the CRISPR/Cas9 system to compare syngeneic daughter clones. This will reduce variation due to other genetic differences allowing for a more precise evaluation of the effects from the mutant protein and allow for the creation of a disease signature.
- Published on 1/1/2017
Kaserman JE, Wilson AA. Protocol for Directed Differentiation of Human Induced Pluripotent Stem Cells (iPSCs) to a Hepatic Lineage. Methods Mol Biol. 2017; 1639:151-160. PMID: 28752455.
- Published on 12/20/2006
Garcia MI, Kaserman J, Chung YH, Jung JU, Lee SH. Herpesvirus saimiri STP-A oncoprotein utilizes Src family protein tyrosine kinase and tumor necrosis factor receptor-associated factors to elicit cellular signal transduction. J Virol. 2007 Mar; 81(6):2663-74. PMID: 17182673.