ArticleScientific reports2019
Uncovering low-level mosaicism in human embryonic stem cells using high throughput single cell shallow sequencing.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- Gas vesicle-expressing human pluripotent stem cells enable multimodal ultrasound and optical coherence tomographic imaging.BMC biotechnology · 2026Article
- Developmental regulation of kinetochore phosphorylation determines mitotic fidelity.bioRxiv : the preprint server for biology · 2026Article
- Method for Validation Multiplexed Droplet Digital PCR for the Detection of Copy Number Variants in Cultured Human Pluripotent Stem Cells.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Derivation of Granulosa-Like Cells from Human Endometrial iPSCs for Autologous Estradiol Production.Tissue engineering and regenerative medicine · 2025Article
- 1q gain bypasses the selective barrier against aneuploidy in RPE differentiation via wild-type co-culture rescue.Nature communications · 2025Article
- Examining iPSC derived motor neuron variability and genome stability monitoring as a solution.Scientific reports · 2025Article
- Cell competition eliminates aneuploid human pluripotent stem cells.Stem cell reports · 2025Article
- Gain of 1q confers an MDM4-driven growth advantage to undifferentiated and differentiating hESC while altering their differentiation capacity.Cell death & disease · 2024Article
- Article
- 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
- Regional and developmental characteristics of human embryo mosaicism revealed by single cell sequencing.PLoS genetics · 2022Article
- Leveraging single-cell sequencing to unravel intratumour heterogeneity and tumour evolution in human cancers.The Journal of pathology · 2022Review
- The Impact of Acquired Genetic Abnormalities on the Clinical Translation of Human Pluripotent Stem Cells.Cells · 2021Review
- Evaluation of tools for identifying large copy number variations from ultra-low-coverage whole-genome sequencing data.BMC genomics · 2021Article
- SureTypeSCR: R package for rapid quality control and genotyping of SNP arrays from single cells.F1000Research · 2021Article
- Advanced Materials to Enhance Central Nervous System Tissue Modeling and Cell Therapy.Advanced functional materials · 2020Article
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Human pluripotent stem cells (hPSCs) have significant levels of low-grade genetic mosaicism, which commonly used techniques fail to detect in bulk DNA. These copy number variations remain a hurdle for the clinical translation of hPSC, as their effect in vivo ranges from unknown to dangerous, and the ability to detect them will be necessary as the field advances. As such there is need for techniques which can efficiently analyse genetic content in single cells with higher throughput and lower costs. We report here on the use of the Fluidigm C1 single cell WGA platform in combination with shallow whole genome sequencing to analyse the genetic content of single hPSCs. From a hPSC line carrying an isochromosome 20, 56 single cells were analysed and found to carry a total of 50 aberrations, across 23% of cells, which could not be detected by bulk analysis. Aberrations were predominantly segmental gains, with a fewer number of segmental losses and aneuploidies. Interestingly, 40% of the breakpoints seen here correspond to known DNA fragile sites. Our results therefore demonstrate the feasibility of single cell shallow sequencing of hPSC and further expand upon the biological importance and frequency of single cell mosaicism in hPSC.
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