2017
DOI: 10.1016/j.stem.2016.08.019
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Patient-Specific iPSC-Derived Endothelial Cells Uncover Pathways that Protect against Pulmonary Hypertension in BMPR2 Mutation Carriers

Abstract: Summary In familial pulmonary arterial hypertension (FPAH) the autosomal dominant disease-causing BMPR2 mutation is only 20% penetrant, suggesting that genetic variation provides modifiers that alleviate the disease. Here, we used comparison of induced pluripotent stem cell derived endothelial cells (iPSC-ECs) from three families with unaffected mutation carriers (UMCs), FPAH patients, and gender-matched controls to investigate this variation. Our analysis identified features of UMC iPSC-ECs related to modifie… Show more

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Cited by 178 publications
(172 citation statements)
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(58 reference statements)
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“…PASMC were cultured in smooth muscle cell media supplemented with 5% FBS, SMC growth supplement and gentamicin/amphotericin-B and used at passage 4–10. Induced pluripotent stem cells derived from fibroblasts and differentiated EC were generated by previously published protocols 8,10 .…”
Section: Methodsmentioning
confidence: 99%
“…PASMC were cultured in smooth muscle cell media supplemented with 5% FBS, SMC growth supplement and gentamicin/amphotericin-B and used at passage 4–10. Induced pluripotent stem cells derived from fibroblasts and differentiated EC were generated by previously published protocols 8,10 .…”
Section: Methodsmentioning
confidence: 99%
“…biology during disease progression and in response to treatment [50,51]. The use of induced pluripotent stem cell (iPSCs) to derive endothelial or smooth muscle cells from PAH patient could represent an alternative and a path to move PAH treatment into personalised medicine [52,53].…”
Section: How Could Precision Medicine Add To Current Pah/ph Management?mentioning
confidence: 99%
“…Genome editing was used to introduce TAZ mutations into iPSCs from a healthy individual, and the edited iPSC-cardiomyocytes displayed the same abnormalities vis-à-vis the matched, non-edited iPSC-cardiomyocytes, strengthening the link between TAZ mutations, the cellular phenotypes, and the clinical features of Barth syndrome. Genome-edited hPSC lines have likewise been informative in studying other cardiomyopathies (7276), lipid metabolism (7782), vascular disorders (83), valvular disease (84), and arrhythmia disorders (85,86). …”
Section: Cardiovascular Research Applicationsmentioning
confidence: 99%