Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
Department of Neonatology, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
Stem Cell Res. 2021 Apr;52:102220. doi: 10.1016/j.scr.2021.102220. Epub 2021 Feb 2.
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.
鸟氨酸氨甲酰基转移酶缺乏症（OTCD）是一种罕见的 X 连锁尿素循环障碍。如果未经治疗，母体 OTCD 可导致危及生命的高氨血症。在这里，我们报告了使用表达 OCT4、SOX2、c-MYC、KLF4 和 BCL-XL 的非整合质粒，从携带涉及 OTC 基因 3-9 个外显子缺失的 OTCD 患者中生成 iPSC 系。SDQLCHi036-A 显示正常核型、多能状态和分化为三个胚层的潜力。我们的方法为探索 OTCD 的发病机制和治疗提供了一个有用的模型。
