Elsevier

Stem Cell Research

Volume 52, April 2021, 102220
Stem Cell Research

Lab resource: Stem Cell Line
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

https://doi.org/10.1016/j.scr.2021.102220Get rights and content
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Abstract

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.

Data availability

Data will be made available on request.

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1

These authors contributed equally to this work.