ArticleCell discovery2015
Uniparental disomy of the entire X chromosome in Turner syndrome patient-specific induced pluripotent stem cells.
Article in Cell discovery, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed.
- Fully T2T pedigree assemblies reveal genetic stability and epigenetic plasticity of human centromeres across inheritance and cell-fate transitions.bioRxiv : the preprint server for biology · 2026Article
- Turner syndrome: the promise of fertility via stem cell technology.Hormones (Athens, Greece) · 2025Review
- Expression Patterns of Escape Genes in Turner Syndrome Fibroblasts and Induced Pluripotent Stem Cells.International journal of molecular sciences · 2025Article
- Microcell-mediated chromosome transfer between non-identical human iPSCs.Molecular therapy. Nucleic acids · 2024Article
- Competing endogenous RNA network analysis of Turner syndrome patient-specific iPSC-derived cardiomyocytes reveals dysregulation of autosomal heart development genes by altered dosages of X-inactivation escaping non-coding RNAs.Stem cell research & therapy · 2023Article
- Organ Abnormalities Caused by Turner Syndrome.Cells · 2023Review
- Article
- Monosomy X in isogenic human iPSC-derived trophoblast model impacts expression modules preserved in human placenta.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Application of Induced Pluripotent Stem Cell-Derived Models for Investigating microRNA Regulation in Developmental Processes.Frontiers in genetics · 2022Review
- Generation of Primordial Germ Cell-like Cells from iPSCs Derived from Turner Syndrome Patients.Cells · 2021Article
- Complex biology of constitutional ring chromosomes structure and (in)stability revealed by somatic cell reprogramming.Scientific reports · 2021Article
- Application of Human Induced Pluripotent Stem Cell-Derived Cellular and Organoid Models for COVID-19 Research.Frontiers in cell and developmental biology · 2021Review
- Studying Abnormal Chromosomal Diseases Using Patient-Derived Induced Pluripotent Stem Cells.Frontiers in cellular neuroscience · 2020Article
- Episomal Induced Pluripotent Stem Cells: Functional and Potential Therapeutic Applications.Cell transplantation · 2019Review
- 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
- Ring chromosomes: from formation to clinical potential.Protoplasma · 2018Review
- Targeted Inhibition of the miR-199a/214 Cluster by CRISPR Interference Augments the Tumor Tropism of Human Induced Pluripotent Stem Cell-Derived Neural Stem Cells under Hypoxic Condition.Stem cells international · 2016Article
- Article
Corrections and comments
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The human induced pluripotent stem cell (iPSC) technique promises to provide an unlimited, reliable source of genetically matched pluripotent cells for personalized therapy and disease modeling. Recently, it is observed that cells with ring chromosomes 13 or 17 autonomously correct the defects via compensatory uniparental disomy during cellular reprogramming to iPSCs. This breakthrough finding suggests a potential therapeutic approach to repair large-scale chromosomal aberrations. However, due to the scarceness of ring chromosome samples, the reproducibility of this approach in different individuals is not carefully evaluated yet. Moreover, the underlying mechanism and the applicability to other types of chromosomal aberrations remain unknown. Here we generated iPSCs from four 45,X chorionic villous fibroblast lines and found that only one reprogrammed line acquired 46,XX karyotype via uniparental disomy of the entire X chromosome. The karyotype correction was reproducible in the same cell line by either retroviral or episomal reprogramming. The karyotype-corrected iPSCs were subject to X chromosome inactivation and obtained better colony morphology and higher proliferation rate than other uncorrected ones. Further transcriptomic comparison among the fibroblast lines identified a distinct expression pattern of cell cycle regulators in the uncorrectable ones. These findings demonstrate that the iPSC technique holds the potential to correct X monosomy, but the correction rate is very low, probably due to differential regulation of cell cycle genes between individuals. Our data strongly suggest that more systematic investigations are needed before defining the iPSC technique as a novel means of chromosome therapy.
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