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

从三名无血缘关系的患者中生成针对肺动脉高压患者的特异性诱导性多能干细胞系,这三名患者的 BMPR2 基因的外显子 12 发生杂合错义突变,外显子 3 发生杂合框内缺失,外显子 11 发生错义突变

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作者:Abdulai Usman, Alexandra Haase, Sylvia Merkert, Gudrun Göhring, Georg Hansmann, Henning Gall, Ralph Schermuly, Ulrich Martin, Ruth Olmer

Abstract

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.

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