ArticleCirculation2012
Modeling supravalvular aortic stenosis syndrome with human induced pluripotent stem cells.
Article in Circulation, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers.
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Who cites it
78 citing papers in PubMed, 122 citations in OpenAlex.
- Sphingosine kinase 1 is integral for elastin deficiency-induced arterial hypermuscularization.Nature cardiovascular research · 2026Article
- Review
- Long-Term Outcomes of Individualized Repair in Patients with Supravalvular Aortic Stenosis.Pediatric cardiology · 2025Article
- Transformative Potential of Induced Pluripotent Stem Cells in Congenital Heart Disease Research and Treatment.Children (Basel, Switzerland) · 2025Review
- Current advances in human-induced pluripotent stem cell-based models and therapeutic approaches for congenital heart disease.Molecular and cellular biochemistry · 2025Review
- Investigating Inherited Heart Diseases Using Human Induced Pluripotent Stem Cell-Based Models.Life (Basel, Switzerland) · 2024Review
- De Novo Elastin Assembly Alleviates Development of Supravalvular Aortic Stenosis-Brief Report.Arteriosclerosis, thrombosis, and vascular biology · 2024Article
- Applications, challenges, and prospects of induced pluripotent stem cells for vascular disease.Molecules and cells · 2024Review
- The Role of Stem Cells in the Treatment of Cardiovascular Diseases.International journal of molecular sciences · 2024Review
- Differentiation of Pluripotent Stem Cells for Disease Modeling: Learning from Heart Development.Pharmaceuticals (Basel, Switzerland) · 2024Review
- Advances in the differentiation of pluripotent stem cells into vascular cells.World journal of stem cells · 2024Review
- Using Genomics to Identify Novel Therapeutic Targets for Aortic Disease.Arteriosclerosis, thrombosis, and vascular biology · 2024Review
- Mesenchymal stem cells in craniofacial reconstruction: a comprehensive review.Frontiers in molecular biosciences · 2024Review
- Understanding genomic medicine for thoracic aortic disease through the lens of induced pluripotent stem cells.Frontiers in cardiovascular medicine · 2024Review
- Effect of Mechanical Stimuli on the Phenotypic Plasticity of Induced Pluripotent Stem-Cell-Derived Vascular Smooth Muscle Cells in a 3D Hydrogel.ACS applied bio materials · 2023Article
- Cardiovascular Tissue Engineering Models for Atherosclerosis Treatment Development.Bioengineering (Basel, Switzerland) · 2023Review
- Comparative study of differentiating human pluripotent stem cells into vascular smooth muscle cells in hydrogel-based culture methods.Regenerative therapy · 2023Article
- Review
- Cellular and Engineered Organoids for Cardiovascular Models.Circulation research · 2022Review
- Deconvoluting the Cells of the Human Heart with iPSC Technology: Cell Types, Protocols, and Uses.Current cardiology reports · 2022Review
18 more citing papers are in PubMed but not listed here.
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Authors and funding
18 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundSupravalvular aortic stenosis (SVAS) is caused by mutations in the elastin (ELN) gene and is characterized by abnormal proliferation of vascular smooth muscle cells (SMCs) that can lead to narrowing or blockage of the ascending aorta and other arterial vessels. Having patient-specific SMCs available may facilitate the study of disease mechanisms and development of novel therapeutic interventions. METHODS AND
resultsHere, we report the development of a human induced pluripotent stem cell (iPSC) line from a patient with SVAS caused by the premature termination in exon 10 of the ELN gene resulting from an exon 9 four-nucleotide insertion. We showed that SVAS iPSC-derived SMCs (iPSC-SMCs) had significantly fewer organized networks of smooth muscle α-actin filament bundles, a hallmark of mature contractile SMCs, compared with control iPSC-SMCs. The addition of elastin recombinant protein or enhancement of small GTPase RhoA signaling was able to rescue the formation of smooth muscle α-actin filament bundles in SVAS iPSC-SMCs. Cell counts and BrdU analysis revealed a significantly higher proliferation rate in SVAS iPSC-SMCs than control iPSC-SMCs. Furthermore, SVAS iPSC-SMCs migrated at a markedly higher rate to the chemotactic agent platelet-derived growth factor compared with the control iPSC-SMCs. We also provided evidence that elevated activity of extracellular signal-regulated kinase 1/2 is required for hyperproliferation of SVAS iPSC-SMCs. The phenotype was confirmed in iPSC-SMCs generated from a patient with deletion of elastin owing to Williams-Beuren syndrome.
conclusionsSVAS iPSC-SMCs recapitulate key pathological features of patients with SVAS and may provide a promising strategy to study disease mechanisms and to develop novel therapies.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.