Generation of pulmonary arterial hypertension patient-specific induced pluripotent stem cell lines from three unrelated patients with a heterozygous missense mutation in exon 12, a heterozygous in-frame deletion in exon 3 and a missense mutation in exon 11 of the BMPR2 gene


Loss-of-function mutations in the bone morphogenetic protein receptor 2 (BMPR2) gene are common in heritable or idiopathic pulmonary arterial hypertension (PAH), and can result in functional impairment of both endothelial and vascular smooth muscle cells. Here, we report 3 PAH patient-specific induced pluripotent stem cells (iPSC) lines from 3 unrelated patients harbouring different mutations in the BMPR2 gene: a heterozygous missense mutation in exon 12, a heterozygous frame shift deletion in exon 3, and a heterozygous missense mutation in exon 11. These cell lines will serve as a valuable resource to model PAH in vitro. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Usman A, Haase A, Merkert S, Göhring G, Hansmann G, Gall H, Schermuly R, Martin U, Olmer R
Journal Stem cell research
Publication Date 2021 Aug;55:102488
PubMed 34388490
DOI 10.1016/j.scr.2021.102488

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