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

Abstract

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.