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
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 Mar;43:101704|