ArticleOrphanet journal of rare diseases2013
Induced pluripotent stem cells from patients with human fibrodysplasia ossificans progressiva show increased mineralization and cartilage formation.
Article in Orphanet journal of rare diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 69 papers.
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Who cites it
69 citing papers in PubMed, 128 citations in OpenAlex.
- Assessing rare disease understanding: a novel disease readiness level framework.Orphanet journal of rare diseases · 2025Article
- Fate plasticity of interneuron specification.iScience · 2025Article
- Induced Mesenchymal Stem Cells: An Emerging Source for Regenerative Medicine Applications.Journal of clinical medicine · 2025Review
- BMP-9 mediates fibroproliferation in fibrodysplasia ossificans progressiva through TGF-β signaling.EMBO molecular medicine · 2025Article
- Modeling of skeletal development and diseases using human pluripotent stem cells.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Review
- iPSCs chondrogenic differentiation for personalized regenerative medicine: a literature review.Stem cell research & therapy · 2024Review
- Induced pluripotent stem cells in cartilage tissue engineering: a literature review.Bioscience reports · 2024Review
- Oxidative phosphorylation is a pivotal therapeutic target of fibrodysplasia ossificans progressiva.Life science alliance · 2024Article
- ALK upregulates POSTN and WNT signaling to drive neuroblastoma.Cell reports · 2024Article
- iMSC-mediated delivery of ACVR2B-Fc fusion protein reduces heterotopic ossification in a mouse model of fibrodysplasia ossificans progressiva.Stem cell research & therapy · 2024Article
- Thalamocortical organoids enable in vitro modeling of 22q11.2 microdeletion associated with neuropsychiatric disorders.Cell stem cell · 2024Article
- Novel insights from human induced pluripotent stem cells on origins and roles of fibro/adipogenic progenitors as heterotopic ossification precursors.Frontiers in cell and developmental biology · 2024Review
- Triggered metabolism of adenosine triphosphate as an explanation for the chemical heterogeneity of heterotopic ossification.Communications chemistry · 2023Article
- Review
- Optimization of Cas9 activity through the addition of cytosine extensions to single-guide RNAs.Nature biomedical engineering · 2023Article
- TGF-Beta Induces Activin A Production in Dermal Fibroblasts Derived from Patients with Fibrodysplasia Ossificans Progressiva.International journal of molecular sciences · 2023Article
- Chondrogenic Differentiation of Human-Induced Pluripotent Stem Cells.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Functional Testing of Bone Morphogenetic Protein (BMP) Pathway Variants Identified on Whole-Exome Sequencing in a Patient with Delayed-Onset Fibrodysplasia Ossificans Progressiva (FOP) Using ACVR1Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Article
- Suppression of heterotopic ossification in fibrodysplasia ossificans progressiva using AAV gene delivery.Nature communications · 2022Article
- Recapitulation of pro-inflammatory signature of monocytes with ACVR1A mutation using FOP patient-derived iPSCs.Orphanet journal of rare diseases · 2022Article
9 more citing papers are in PubMed but not listed here.
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Authors and funding
16 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundAbnormal activation of endochondral bone formation in soft tissues causes significant medical diseases associated with disability and pain. Hyperactive mutations in the bone morphogenetic protein (BMP) type 1 receptor ACVR1 lead to fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder characterized by progressive ossification in soft tissues. However, the specific cellular mechanisms are unclear. In addition, the difficulty obtaining tissue samples from FOP patients and the limitations in mouse models of FOP hamper our ability to dissect the pathogenesis of FOP.
methodsTo address these challenges and develop a "disease model in a dish", we created human induced pluripotent stem cells (iPS cells) derived from normal and FOP dermal fibroblasts by two separate methods, retroviral integration or integration-free episomal vectors. We tested if the ability to contribute to different steps of endochondral bone formation was different in FOP vs. control iPS cells.
resultsRemarkably, FOP iPS cells showed increased mineralization and enhanced chondrogenesis in vitro. The mineralization phenotypes could be suppressed with a small-molecule inhibitor of BMP signaling, DMH1. Our results indicate that the FOP ACVR1 R206H mutation favors chondrogenesis and increases mineral deposition in vitro.
conclusionsOur findings establish a FOP disease cell model for in vitro experimentation and provide a proof-of-concept for using human iPS cell models to understand human skeletal disorders.
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