从两名纯合子细胞色素P450氧化还原酶缺陷患者（BGUi002 - A和BGUi003 - A）以及一名杂合子健康家族亲属（BGUi001 - A）中诱导多能干细胞系的生成。
Generation of iPSC lines from two (BGUi002-A and BGUi003-A) homozygous p450 oxidoreductase-deficient patients and from one (BGUi001-A) heterozygous healthy family relative.
作者信息
Zlotnik Dor, Rabinski Tatiana, Ofir Rivka, Hershkovitz Eli, Vatine Gad D
机构信息
The Department of Physiology and Cell Biology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva 84105, Israel; Department of Life Sciences, Ben-Gurion University of the Negev, Beer Sheva 84105, Israel; The Regenerative Medicine and Stem Cell (RMSC) Research Center, Ben-Gurion University of the Negev, Beer Sheva 84105, Israel; The Zlotowski Center for Neuroscience, Ben-Gurion University of the Negev, Beer Sheva 84105, Israel.
The Regenerative Medicine and Stem Cell (RMSC) Research Center, Ben-Gurion University of the Negev, Beer Sheva 84105, Israel.
出版信息
Stem Cell Res. 2020 Oct;48:101975. doi: 10.1016/j.scr.2020.101975. Epub 2020 Sep 1.
p450 oxidoreductase (POR) cytochromes are enzymes involved in the metabolism of steroids and sex hormones, in which POR acts as an electron donor. Inactivating mutations in the POR gene cause diverse deficiencies. Access to patient samples carrying these POR mutations can contribute to the understanding of metabolic and developmental processes. We report the generation of three iPSC lines from two POR-deficient patients carrying a rare G539R homozygous mutation, and one healthy heterozygous family relative. All generated lines highly expressed pluripotency markers, spontaneously differentiated into three germ layers, retained the deficiency causing mutation and displayed normal karyotypes.
细胞色素P450氧化还原酶（POR）是参与类固醇和性激素代谢的酶，其中POR作为电子供体。POR基因的失活突变会导致多种缺陷。获取携带这些POR突变的患者样本有助于理解代谢和发育过程。我们报告了从两名携带罕见G539R纯合突变的POR缺陷患者以及一名健康的杂合家族亲属中生成了三条诱导多能干细胞（iPSC）系。所有生成的细胞系均高表达多能性标志物，自发分化为三个胚层，保留了导致缺陷的突变并显示出正常的核型。
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