ArticleAging2011
Generation of induced pluripotent stem cell lines from 3 distinct laminopathies bearing heterogeneous mutations in lamin A/C.
Article in Aging, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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Who cites it
50 citing papers in PubMed, 89 citations in OpenAlex.
- POLR3A mutations cause nucleolus abnormalities and aberrant telomerase RNA metabolism in induced pluripotent stem cells from Wiedemann-Rautenstrauch premature aging syndrome patient.Biogerontology · 2025Article
- Review
- Genetic Cardiomyopathies: The Lesson Learned from hiPSCs.Journal of clinical medicine · 2021Review
- Versatility of Induced Pluripotent Stem Cells (iPSCs) for Improving the Knowledge on Musculoskeletal Diseases.International journal of molecular sciences · 2020Review
- Gene expression profiling of fibroblasts in a family with LMNA-related cardiomyopathy reveals molecular pathways implicated in disease pathogenesis.BMC medical genetics · 2020Article
- High-throughput gene screen reveals modulators of nuclear shape.Molecular biology of the cell · 2020Article
- Using human induced pluripotent stem cells (hiPSCs) to investigate the mechanisms by which Apolipoprotein E (APOE) contributes to Alzheimer's disease (AD) risk.Neurobiology of disease · 2020Review
- Pharmacotherapy to gene editing: potential therapeutic approaches for Hutchinson-Gilford progeria syndrome.GeroScience · 2020Review
- The Broad Spectrum ofFrontiers in physiology · 2020Review
- Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.International journal of molecular sciences · 2019Review
- Chromatin compartment dynamics in a haploinsufficient model of cardiac laminopathy.The Journal of cell biology · 2019Article
- The K219T-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy.Nature communications · 2019Article
- Review
- Harnessing cellular aging in human stem cell models of amyotrophic lateral sclerosis.Aging cell · 2019Review
- The march of pluripotent stem cells in cardiovascular regenerative medicine.Stem cell research & therapy · 2018Review
- Modeling Skeletal Muscle Laminopathies Using Human Induced Pluripotent Stem Cells Carrying PathogenicFrontiers in physiology · 2018Article
- Induced Pluripotent Stem Cells to Study Mechanisms of Laminopathies: Focus on Epigenetics.Frontiers in cell and developmental biology · 2018Review
- TOR-mediated regulation of metabolism in aging.Aging cell · 2017Review
- The Potential of iPSCs for the Treatment of Premature Aging Disorders.International journal of molecular sciences · 2017Review
- Human pluripotent stem cell models of cardiac disease: from mechanisms to therapies.Disease models & mechanisms · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The term laminopathies defines a group of genetic disorders caused by defects in the nuclear envelope, mostly the lamins. Lamins are the main constituents of the nuclear lamina, a filamentous meshwork associated with the inner nuclear membrane that provides mechanical stability and plays important roles in processes such as transcription, DNA replication and chromatin organization. More than 300 mutations inlamin A/C have been associated with diverse clinical phenotypes, understanding the molecular basis of these diseases may provide a rationale for treating them. Here we describe the generation of induced pluripotent stem cells (iPSCs) from a patient with inherited dilated cardiomiopathy and 2 patients with distinct accelerated forms of aging, atypical Werner syndrome and Hutchinson Gilford progeria, all of which are caused by mutations in lamin A/C. These cell lines were pluripotent and displayed normal nuclear membrane morphology compared to donor fibroblasts. Their differentiated progeny reproduced the disease phenotype, reinforcing the idea that they represent excellent tools for understanding the role of lamin A/C in normal physiology and the clinical diversity associated with these diseases.
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Registered trials
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.