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Mon, Dec 16, 2024
DefiniGEN human iPSC-derived Ornithine transcarbamylase (OTC) modelled hepatocytes.
Ornithine transcarbamylase (OTC) deficiency is an inherited, X-linked, recessive metabolic disorder and, currently, the most common UCD with a prevalence of one in 60-70,000 in humans. It is mainly caused by mutations on the OTC gene, which encodes the mitochondrial enzyme ornithine transcarbamylase. There are no prevalent mutations in the human population, and most of them are distributed throughout the gene. Due to difficulties in developing iPSC- derived hepatocytes with a functional urea cycle pathway, no in vitro disease models for OTC deficiency are available to date.
