ArticleStem cell research & therapy2012
Generation of disease-specific induced pluripotent stem cells from patients with different karyotypes of Down syndrome.
Article in Stem cell research & therapy, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed.
- Stem cell-based therapeutic strategies for down syndrome and Alzheimer's disease.Stem cell research & therapy · 2025Review
- Patient-Derived Organoids Recapitulate Pathological Intrinsic and Phenotypic Features of Fibrous Dysplasia.Cells · 2024Article
- Role of immediate early genes in the development of salivary gland organoids in polyisocyanopeptide hydrogels.Frontiers in molecular biosciences · 2023Article
- Cell models for Down syndrome-Alzheimer's disease research.Neuronal signaling · 2022Review
- Restoration of keratinocytic phenotypes in autonomous trisomy-rescued cells.Stem cell research & therapy · 2021Article
- Biologic Therapy in Chronic Pain Management: a Review of the Clinical Data and Future Investigations.Current pain and headache reports · 2021Review
- Great Expectations: Induced pluripotent stem cell technologies in neurodevelopmental impairments.International journal of medical sciences · 2021Review
- Basal Forebrain Cholinergic Neurons: Linking Down Syndrome and Alzheimer's Disease.Frontiers in aging neuroscience · 2021Review
- The Evolution of Stem Cells, Disease Modeling, and Drug Discovery for Neurological Disorders.Stem cells and development · 2020Review
- Recent technological advancements in stem cell research for targeted therapeutics.Drug delivery and translational research · 2020Review
- Extracellular matrix hydrogel derived from decellularized tissues enables endodermal organoid culture.Nature communications · 2019Article
- Allele-Specific Biased Expression of the CNTN6 Gene in iPS Cell-Derived Neurons from a Patient with Intellectual Disability and 3p26.3 Microduplication Involving the CNTN6 Gene.Molecular neurobiology · 2018Article
- Inhibition of p25/Cdk5 Attenuates Tauopathy in Mouse and iPSC Models of Frontotemporal Dementia.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2017Article
- Therapeutic potential of mesenchymal stem cells for diabetes.Journal of molecular endocrinology · 2017Review
- Down syndrome and the complexity of genome dosage imbalance.Nature reviews. Genetics · 2017Review
- Induced pluripotent stem cells as a cellular model for studying Down Syndrome.Journal of stem cells & regenerative medicine · 2016Review
- Role of augmented transferrin during the retraining for undeveloped left ventricle.Journal of cellular and molecular medicine · 2015Article
- Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.Molecular syndromology · 2015Review
- Concise Review: Methods and Cell Types Used to Generate Down Syndrome Induced Pluripotent Stem Cells.Journal of clinical medicine · 2015Review
- Wnt and FGF mediated epithelial-mesenchymal crosstalk during lung development.Developmental dynamics : an official publication of the American Association of Anatomists · 2015Review
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9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionDown syndrome (DS), a major cause of mental retardation, is caused by trisomy of some or all of human chromosome 21 and includes three basic karyotypes: trisomy 21, translocation, and mosaicism. The derivation of DS-specific induced pluripotent stem cells (iPSCs) provides us novel DS models that can be used to determine the DS mechanism and to devise therapeutic approaches for DS patients.
methodsIn the present study, fibroblasts from patients with DS of various karyotypes were reprogrammed into iPSCs via the overexpression of four factors: OCT4, SOX2, KLF4, and c-MYC, by using lentiviral vectors. The abilities of the iPSC-DS in the self-renewal and pluripotency in vitro and in vivo were then examined.
resultsThe iPSC-DS showed characteristics similar to those of human embryonic stem cells, particularly the morphology, surface marker (SSEA4, TRA-1-60, and TRA-1-81) expression, pluripotent-specific transcription-factor expression levels, and methylation status of the OCT4 promoter. The pluripotency of iPSC-DS was also tested in vitro and in vivo. Embryoid bodies were formed and showed the expression of differentiated markers for three germ layers. Furthermore, iPSC-DS formed classic teratomas when injected into nonobese diabetic-severe combined immunodeficient (NOD-SCID) mice.
conclusionsiPSCs were generated from patients with DS. The iPSCs derived from different types of DS may be used in DS modeling, patient-care optimization, drug discovery, and eventually, autologous cell-replacement therapies.
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