Reproduction Abstracts

Citrin deficiency (CD) is a recessive genetic disorder caused by mutations in SLC25A13 gene which encodes citrin protein. CD patients manifest various symptoms related to nutrient metabolism such as urea cycle failure, abnormal amino acid levels, and fatty liver. To understand the pathophysiology of CD, the molecular phenotypes were investigated using induced pluripotent stem cells (iPSCs) derived from dermal fibroblasts of CD patient (CD-iPSCs). Here we demonstrate t...