iPSCs Reveal Protective Modifiers of the BMPR2 mutation in Pulmonary Arterial Hypertension

The goal of this study is to compare transcriptome profiling (RNA-seq) in controls, unaffected BMPR2 mutation carriers and affected familial pulmonary arterial hypertension patients, to elucidate a protective feature in iPS derived endothelial cells from the mutation carriers. Overall design: mRNA profiles of iPSC-ECs from unrelated control (n=3), unaffected BMPR2 mutation carriers (n=3) and FPAH patients with BMPR2 mutation (n=5).

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Gu M, Shao NY, Sa S, Li D, Termglinchan V, Ameen M, Karakikes I, Sosa G, Grubert F, Lee J, Cao A, Taylor S, Ma Y, Zhao Z, Chappell J, Hamid R, Austin ED, Gold JD, Wu JC, Snyder MP, Rabinovitch M