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 Feb 2;52:102220
PubMed 33550136
DOI 10.1016/j.scr.2021.102220

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