ArticleLaboratory investigation; a journal of technical methods and pathology2019
Autonomous trisomic rescue of Down syndrome cells.
Article in Laboratory investigation; a journal of technical methods and pathology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 27 citations in OpenAlex.
- Chromosome engineering to correct a complex rearrangement on Chromosome 8 reveals the effects of 8p syndrome on gene expression and neural differentiation.Genome research · 2026Article
- Identifying a rare mechanism: double parallel trisomy rescue leading to combined segmental and whole-chromosome mosaicism in an IVF-derived embryo.Journal of assisted reproduction and genetics · 2025Article
- Long-Term Survival Among Children With Trisomy 13 and Trisomy 18 by Cytogenetic Status.JAMA network open · 2025Article
- Somatic Mosaicism in Brain Disorders.Annual review of pathology · 2025Review
- Microcell-mediated chromosome transfer between non-identical human iPSCs.Molecular therapy. Nucleic acids · 2024Article
- Consequences of trisomy 21 for brain development in Down syndrome.Nature reviews. Neuroscience · 2024Review
- A dynamic in vitro model of Down syndrome neurogenesis with trisomy 21 gene dosage correction.Science advances · 2024Article
- Understanding the genetic mechanisms and cognitive impairments in Down syndrome: towards a holistic approach.Journal of neurology · 2024Review
- Dynamic Features of Chromosomal Instability during Culture of Induced Pluripotent Stem Cells.Genes · 2022Article
- Cell models for Down syndrome-Alzheimer's disease research.Neuronal signaling · 2022Review
- Article
- Restoration of keratinocytic phenotypes in autonomous trisomy-rescued cells.Stem cell research & therapy · 2021Article
- Epigenetic reprogramming of cell identity: lessons from development for regenerative medicine.Clinical epigenetics · 2021Review
- Gorlin syndrome-induced pluripotent stem cells form medulloblastoma with loss of heterozygosity inAging · 2020Article
- Establishment of a Gorlin syndrome model from induced neural progenitor cells exhibiting constitutive GLI1 expression and high sensitivity to inhibition by smoothened (SMO).Laboratory investigation; a journal of technical methods and pathology · 2020Article
- Down syndrome: A curative prospect?AIMS neuroscience · 2020Review
- Studying Abnormal Chromosomal Diseases Using Patient-Derived Induced Pluripotent Stem Cells.Frontiers in cellular neuroscience · 2020Article
- Activation of the ISR mediates the behavioral and neurophysiological abnormalities in Down syndrome.Science (New York, N.Y.) · 2019Article
- Frequent retrotransposition of endogenous genes in ERCC2-deficient cells derived from a patient with xeroderma pigmentosum.Stem cell research & therapy · 2019Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Down syndrome is the most frequent chromosomal abnormality among live-born infants. All Down syndrome patients have mental retardation and are prone to develop early onset Alzheimer's disease. However, it has not yet been elucidated whether there is a correlation between the phenotype of Down syndrome and the extra chromosome 21. In this study, we continuously cultivated induced pluripotent stem cells (iPSCs) with chromosome 21 trisomy for more than 70 weeks, and serendipitously obtained revertant cells with normal chromosome 21 diploids from the trisomic cells during long-term cultivation. Repeated experiments revealed that this trisomy rescue was not due to mosaicism of chromosome 21 diploid cells and occurred at an extremely high frequency. We herewith report the spontaneous correction from chromosome 21 trisomy to disomy without genetic manipulation, chemical treatment or exposure to irradiation. The revertant diploid cells will possibly serve a reference for drug screening and a raw material of regenerative medicinal products for cell-based therapy.
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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 Socratic graph.