Generation of a human induced pluripotent stem cell line (SDQLCHi036-A) from a patient with ornithine transcarbamylase deficiency carrying a deletion involving 3-9 exons of OTC gene

Ornithine transcarbamylase deficiency (OTCD) is a rare X-linked urea cycle disorder. Maternal OTCD can lead to life-threatening hyperammonemia if untreated. Here, we report the Generation of an iPSC line from a patient with OTCD carrying a deletion involving 3-9 exons of OTC gene using non-integrating plasmids expressing OCT4, SOX2, c-MYC, KLF4, and BCL-XL. The SDQLCHi036-A showed normal karyotype, pluripotent state, and potential to differentiate into three germ layers. Our approach offers a useful model to explore pathogenesis and therapy of OTCD.

Automated summary

Ornithine transcarbamylase deficiency (OTCD) is a rare X-linked urea cycle disorder that can lead to life-threatening hyperammonemia if untreated. By generating an iPSC line from a patient with OTCD, researchers were able to create a model for exploring the pathogenesis and therapy of OTCD, as the iPSC line showed normal karyotype, pluripotency, and potential to differentiate into three germ layers.