ArticleScientific reports2020
Functional in vivo and in vitro effects of 20q11.21 genetic aberrations on hPSC differentiation.
Article in Scientific reports, 2020. 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, 31 citations in OpenAlex.
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- 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
- 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
- Gain of 20q11.21 in human pluripotent stem cells enhances differentiation to retinal pigment epithelium.Stem cell research & therapy · 2025Article
- Chromosomal quality control in hPSCs: A practical guide to SNP array analysis with GenomeStudio.Frontiers in cell and developmental biology · 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
- Longitudinal analysis of genetic and epigenetic changes in human pluripotent stem cells in the landscape of culture-induced abnormality.Experimental & molecular medicine · 2024Article
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- SALL3 mediates the loss of neuroectodermal differentiation potential in human embryonic stem cells with chromosome 18q loss.Stem cell reports · 2024Article
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- Gains of 20q11.21 in human pluripotent stem cells: Insights from cancer research.Stem cell reports · 2024Review
- Characterization and AAV-mediatedMolecular therapy. Methods & clinical development · 2023Article
- TPX2 prompts mitotic survival via the induction of BCL2L1 through YAP1 protein stabilization in human embryonic stem cells.Experimental & molecular medicine · 2023Article
- Single cell heterogeneity in human pluripotent stem cells.BMB reports · 2021Article
- Identification of cancer-related mutations in human pluripotent stem cells using RNA-seq analysis.Nature protocols · 2021Article
Corrections and comments
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Human pluripotent stem cells (hPSCs) have promising therapeutic applications due to their infinite capacity for self-renewal and pluripotency. Genomic stability is imperative for the clinical use of hPSCs; however, copy number variation (CNV), especially recurrent CNV at 20q11.21, may contribute genomic instability of hPSCs. Furthermore, the effects of CNVs in hPSCs at the whole-transcriptome scale are poorly understood. This study aimed to examine the functional in vivo and in vitro effects of frequently detected CNVs at 20q11.21 during early-stage differentiation of hPSCs. Comprehensive transcriptome profiling of abnormal hPSCs revealed that the differential gene expression patterns had a negative effect on differentiation potential. Transcriptional heterogeneity identified by single-cell RNA sequencing (scRNA-seq) of embryoid bodies from two different isogenic lines of hPSCs revealed alterations in differentiated cell distributions compared with that of normal cells. RNA-seq analysis of 22 teratomas identified several differentially expressed lineage-specific markers in hPSCs with CNVs, consistent with the histological results of the altered ecto/meso/endodermal ratio due to CNVs. Our results suggest that CNV amplification contributes to cell proliferation, apoptosis, and cell fate specification. This work shows the functional consequences of recurrent genetic abnormalities and thereby provides evidence to support the development of cell-based applications.
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