Article
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.
Stem cell research - 1 Apr 2021
Guan Jingyun, Yan Beibei, Zhang Haiyan, Liu Chen, Li Yue, Yang Xiaomeng, Li Zilong, Gai Zhongtao, Liu Yi
Abstract excerpt
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...
Topics
- Exons
- Humans
- Induced Pluripotent Stem Cells
- Kruppel-Like Factor 4
- Mutation
- Ornithine Carbamoyltransferase Deficiency Disease