
Open Access paper “Humanized liver mouse model with transplanted human hepatocytes from patients with ornithine transcarbamylase deficiency” describes the development of a humanized liver mouse model of OTCD with the characteristics similar to OTCD patients. Ornithine transcarbamylase deficiency (OTCD) is a metabolic and genetic disease caused by dysfunction of the hepatocytic urea cycle. Primary human hepatocytes isolated from male and female pediatric patients were used for the transplantation into cDNA-uPA/SCID mice to develop this OTC mouse model. Serial transplantation was used to achieve high repopulation of mouse liver with donor hepatocytes (over 80%). Highly humanized OTCD mice showed characteristics similar to those seen in OTCD patients including increased blood ammonia levels and urine orotic acid levels enhanced by allopurinol treatment. Additionally, human hepatocytes isolated from the mice were useful as an in vitro model of OTCD as they displayed a similar morphology to control hepatocytes for more than two weeks after plating.