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

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

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 understan...

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Main Authors: Dor Zlotnik, Tatiana Rabinski, Rivka Ofir, Eli Hershkovitz, Gad D. Vatine
Format: Article
Language:English
Published: Elsevier 2020-10-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506120302762
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spelling doaj-26aa927b394e41b9a65c4f4d0c1038632020-11-25T03:55:19ZengElsevierStem Cell Research1873-50612020-10-0148101975Generation of iPSC lines from two (BGUi002-A and BGUi003-A) homozygous p450 oxidoreductase-deficient patients and from one (BGUi001-A) heterozygous healthy family relativeDor Zlotnik0Tatiana Rabinski1Rivka Ofir2Eli Hershkovitz3Gad D. Vatine4The 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, IsraelThe Regenerative Medicine and Stem Cell (RMSC) Research Center, Ben-Gurion University of the Negev, Beer Sheva 84105, IsraelThe Regenerative Medicine and Stem Cell (RMSC) Research Center, Ben-Gurion University of the Negev, Beer Sheva 84105, IsraelPediatric Endocrinology and Diabetes Unit, Soroka University Medical Center, Beer Sheva, IsraelThe Department of Physiology and Cell Biology, Faculty of Health 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; Corresponding author at: The Department of Physiology and Cell Biology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva 84105, Israel.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.http://www.sciencedirect.com/science/article/pii/S1873506120302762
collection DOAJ
language English
format Article
sources DOAJ
author Dor Zlotnik
Tatiana Rabinski
Rivka Ofir
Eli Hershkovitz
Gad D. Vatine
spellingShingle Dor Zlotnik
Tatiana Rabinski
Rivka Ofir
Eli Hershkovitz
Gad D. Vatine
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
Stem Cell Research
author_facet Dor Zlotnik
Tatiana Rabinski
Rivka Ofir
Eli Hershkovitz
Gad D. Vatine
author_sort Dor Zlotnik
title 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
title_short 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_sort 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
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2020-10-01
description 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.
url http://www.sciencedirect.com/science/article/pii/S1873506120302762
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AT tatianarabinski generationofipsclinesfromtwobgui002aandbgui003ahomozygousp450oxidoreductasedeficientpatientsandfromonebgui001aheterozygoushealthyfamilyrelative
AT rivkaofir generationofipsclinesfromtwobgui002aandbgui003ahomozygousp450oxidoreductasedeficientpatientsandfromonebgui001aheterozygoushealthyfamilyrelative
AT elihershkovitz generationofipsclinesfromtwobgui002aandbgui003ahomozygousp450oxidoreductasedeficientpatientsandfromonebgui001aheterozygoushealthyfamilyrelative
AT gaddvatine generationofipsclinesfromtwobgui002aandbgui003ahomozygousp450oxidoreductasedeficientpatientsandfromonebgui001aheterozygoushealthyfamilyrelative
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