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
Summary
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. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Guan J, Yan B, Zhang H, Liu C, Li Y, Yang X, Li Z, Gai Z, Liu Y |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 Apr;52:102220 |
| PubMed | 33550136 |
| DOI | 10.1016/j.scr.2021.102220 |