Generation of an induced pluripotent stem cell line (SDQLCHi009-A) from a patient with 47,XXY and ornithine transcarbamylase deficiency carrying a hemizygote mutation in OTC

Summary

An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells of a 3-day-old boy with 47,XXY and ornithine transcarbamylase deficiency carrying hemizygote mutation (c.663+2T>G (sliping)) in OTC. The iPSCs had original 47,XXY, and mutation in OTC, expressing pluripotency markers and bearing differentiation potential in vitro. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Yang X, Yan B, Zhang H, Ma Y, Zhou Q, Li Y, Guan J, Wang D, Liu Y, Gai Z
Journal Stem cell research
Publication Date 2020 Jan 17;43:101704
PubMed 32014801
DOI 10.1016/j.scr.2020.101704

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