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.
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DOI: 10.1016/j.scr.2021.102220
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… read more here.
Keywords: involving exons; ornithine transcarbamylase; carrying deletion; deletion involving ... See more keywords