Dataset Information


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

ABSTRACT: 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).

INSTRUMENT(S): Illumina HiSeq 2000 (Homo sapiens)

SUBMITTER: Marlene Rabinovitch 

PROVIDER: GSE79613 | GEO | 2017-01-18



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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  ...[more]

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