ArticleCells2020
Urine-Derived Epithelial Cell Lines: A New Tool to Model Fragile X Syndrome (FXS).
Article in Cells, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 4 citations in OpenAlex.
- Patient-derived brain organoids reveal divergent neuronal activity across subpopulations of autism spectrum disorder.Translational psychiatry · 2026Article
- Efficient generation of human induced pluripotent stem cells from urine samples of patients with Fragile X syndrome.Frontiers in cell and developmental biology · 2024Article
- Human induced neural stem cells support functional recovery in spinal cord injury models.Experimental & molecular medicine · 2023Article
- Urine-derived induced pluripotent/neural stem cells for modeling neurological diseases.Cell & bioscience · 2021Review
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fragile X syndrome (FXS) is an X-linked neurodevelopmental condition associated with intellectual disability and behavioral problems due to the lack of the Fragile X mental retardation protein (FMRP), which plays a crucial role in synaptic plasticity and memory. A desirable in vitro cell model to study FXS would be one that can be generated by simple isolation and culture method from a collection of a non-invasive donor specimen. Currently, the various donor-specific cells can be isolated mainly from peripheral blood and skin biopsy. However, they are somewhat invasive methods for establishing cell lines from the primary subject material. In this study, we characterized a cost-effective and straightforward method to derive epithelial cell lines from urine samples collected from participants with FXS and healthy controls (TD). The urine-derived cells expressed epithelial cell surface markers via fluorescence-activated cell sorting (FACS). We observed inter, and the intra-tissue CGG mosaicism in the PBMCs and the urine-derived cells from participants with FXS potentially related to the observed variations in the phenotypic and clinical presentation FXS. We characterized these urine-derived epithelial cells for
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Registered trials
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