Leibniz Research Laboratories for Biotechnology and Artificial Organs (LEBAO), Department of Cardiothoracic, Transplantation and Vascular Surgery, Hannover Medical School, 30625 Hannover, Germany; REBIRTH - Research Centre for Translational and Regenerative Medicine, Hannover Medical School, Hannover, Germany; Biomedical Research in Endstage and Obstructive Lung Disease (BREATH), Member of the German Centre for Lung Research (DZL), Germany.
Leibniz Research Laboratories for Biotechnology and Artificial Organs (LEBAO), Department of Cardiothoracic, Transplantation and Vascular Surgery, Hannover Medical School, 30625 Hannover, Germany; REBIRTH - Research Centre for Translational and Regenerative Medicine, Hannover Medical School, Hannover, Germany.
Stem Cell Res. 2021 Aug;55:102488. doi: 10.1016/j.scr.2021.102488. Epub 2021 Aug 5.
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.
骨形态发生蛋白受体 2（BMPR2）基因突变在遗传性或特发性肺动脉高压（PAH）中很常见，可导致内皮细胞和血管平滑肌细胞的功能障碍。在这里，我们报告了 3 例源自 3 名无关患者的 PAH 患者特异性诱导多能干细胞（iPSC）系，这些患者在 BMPR2 基因中存在不同的突变：第 12 外显子的杂合错义突变，第 3 外显子的杂合框移缺失，以及第 11 外显子的杂合错义突变。这些细胞系将成为体外模拟 PAH 的有价值资源。
