ArticleStem cell reports2023
The isochromosome 20q abnormality of pluripotent cells interrupts germ layer differentiation.
Article in Stem cell reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Structure Variations and 3D Genome Disruption: Implications in Safety of hPSC-Based Cell Therapy.International journal of molecular sciences · 2026Review
- 1q gain bypasses the selective barrier against aneuploidy in RPE differentiation via wild-type co-culture rescue.Nature communications · 2025Article
- Loss of 18q Alters TGFβ Signalling Affecting Anteroposterior Neuroectodermal Fate in Human Embryonic Stem Cells.Cell proliferation · 2025Article
- Chromosomal Aberrations in Induced Pluripotent Stem Cells: Identification of Breakpoints in the LargeInternational journal of molecular sciences · 2025Article
- A toolkit for mapping cell identities in relation to neighbors reveals conserved patterning of neuromesodermal progenitor populations.PLoS biology · 2025Article
- Gain of 20q11.21 in human pluripotent stem cells enhances differentiation to retinal pigment epithelium.Stem cell research & therapy · 2025Article
- Culture-acquired genetic variation in human pluripotent stem cells: Twenty years on.BioEssays : news and reviews in molecular, cellular and developmental biology · 2024Review
- Gain of 1q confers an MDM4-driven growth advantage to undifferentiated and differentiating hESC while altering their differentiation capacity.Cell death & disease · 2024Article
- SALL3 mediates the loss of neuroectodermal differentiation potential in human embryonic stem cells with chromosome 18q loss.Stem cell reports · 2024Article
- Gains of 20q11.21 in human pluripotent stem cells: Insights from cancer research.Stem cell reports · 2024Review
- CGMP Compliant Microfluidic Transfection of Induced Pluripotent Stem Cells for CRISPR-Mediated Genome Editing.Stem cells (Dayton, Ohio) · 2023Article
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Authors and funding
8 authors.
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Abstract
Chromosome 20 abnormalities are some of the most frequent genomic changes acquired by human pluripotent stem cell (hPSC) cultures worldwide. Yet their effects on differentiation remain largely unexplored. We investigated a recurrent abnormality also found on amniocentesis, the isochromosome 20q (iso20q), during a clinical retinal pigment epithelium differentiation. Here we show that the iso20q abnormality interrupts spontaneous embryonic lineage specification. Isogenic lines revealed that under conditions that promote the spontaneous differentiation of wild-type hPSCs, the iso20q variants fail to differentiate into primitive germ layers and to downregulate pluripotency networks, resulting in apoptosis. Instead, iso20q cells are highly biased for extra-embryonic/amnion differentiation following inhibition of DNMT3B methylation or BMP2 treatment. Finally, directed differentiation protocols can overcome the iso20q block. Our findings reveal in iso20q a chromosomal abnormality that impairs the developmental competency of hPSCs toward germ layers but not amnion, which models embryonic developmental bottlenecks in the presence of aberrations.
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