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Wu, Y., Meng, F., Li, Q., Koschan, M., & Melcher, C. L. (2014). Role of Ce4+ in the scintillation mechanism of codoped Gd3Ga3Al2O12:Ce. Phys. Rev. Appl., 2(4), 044009.
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Wray, S., Self, M., Lewis, P. A., Taanman, J. - W., Ryan, N. S., Mahoney, C. J., et al. (2012). Creation of an open-access, mutation-defined fibroblast resource for neurological disease research. PLoS One, 7(8), e43099.
Abstract: Our understanding of the molecular mechanisms of many neurological disorders has been greatly enhanced by the discovery of mutations in genes linked to familial forms of these diseases. These have facilitated the generation of cell and animal models that can be used to understand the underlying molecular pathology. Recently, there has been a surge of interest in the use of patient-derived cells, due to the development of induced pluripotent stem cells and their subsequent differentiation into neurons and glia. Access to patient cell lines carrying the relevant mutations is a limiting factor for many centres wishing to pursue this research. We have therefore generated an open-access collection of fibroblast lines from patients carrying mutations linked to neurological disease. These cell lines have been deposited in the National Institute for Neurological Disorders and Stroke (NINDS) Repository at the Coriell Institute for Medical Research and can be requested by any research group for use in in vitro disease modelling. There are currently 71 mutation-defined cell lines available for request from a wide range of neurological disorders and this collection will be continually expanded. This represents a significant resource that will advance the use of patient cells as disease models by the scientific community.
Keywords: Access to Information; Biopsy; Cell Differentiation; Cell Line; Cell Proliferation; Databases, Factual; Fibroblasts/*cytology/metabolism; Humans; Immunohistochemistry/methods; Induced Pluripotent Stem Cells/cytology; Models, Genetic; *Mutation; Nervous System Diseases/*genetics/*physiopathology; *Tissue Banks
Notes: PMID:22952635; PMCID:PMC3428297
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Abbott, B. P., Abbott, R., Adhikari, R., Ajith, P., Allen, B., Allen, G., et al. (2009). Einstein@Home search for periodic gravitational waves in early S5 LIGO data. Physical Review D, 80(4), 042003.
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Yang, J., Cai, J., Zhang, Y., Wang, X., Li, W., Xu, J., et al. (2010). Induced pluripotent stem cells can be used to model the genomic imprinting disorder Prader-Willi syndrome. J Biol Chem, 285(51), 40303–40311.
Abstract: The recent discovery of induced pluripotent stem cell (iPSC) technology provides an invaluable tool for creating in vitro representations of human genetic conditions. This is particularly relevant for those diseases that lack adequate animal models or where the species comparison is difficult, e.g. imprinting diseases such as the neurogenetic disorder Prader-Willi syndrome (PWS). However, recent reports have unveiled transcriptional and functional differences between iPSCs and embryonic stem cells that in cases are attributable to imprinting errors. This has suggested that human iPSCs may not be useful to model genetic imprinting diseases. Here, we describe the generation of iPSCs from a patient with PWS bearing a partial translocation of the paternally expressed chromosome 15q11-q13 region to chromosome 4. The resulting iPSCs match all standard criteria of bona fide reprogramming and could be readily differentiated into tissues derived from the three germ layers, including neurons. Moreover, these iPSCs retain a high level of DNA methylation in the imprinting center of the maternal allele and show concomitant reduced expression of the disease-associated small nucleolar RNA HBII-85/SNORD116. These results indicate that iPSCs may be a useful tool to study PWS and perhaps other genetic imprinting diseases as well.
Keywords: Cell Dedifferentiation/genetics; Cells, Cultured; Chromosomes, Human, Pair 15/genetics/metabolism; Chromosomes, Human, Pair 4/genetics/metabolism; *DNA Methylation; *Genomic Imprinting; Humans; Induced Pluripotent Stem Cells/*metabolism/pathology; *Models, Biological; Prader-Willi Syndrome/genetics/*metabolism/pathology; RNA, Small Nuclear/biosynthesis/genetics; Translocation, Genetic/genetics
Notes: PMID:20956530; PMCID:PMC3001010
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Kuijlaars, J., Oyelami, T., Diels, A., Rohrbacher, J., Versweyveld, S., Meneghello, G., et al. (2016). Sustained synchronized neuronal network activity in a human astrocyte co-culture system. Sci Rep, 6, 36529.
Abstract: Impaired neuronal network function is a hallmark of neurodevelopmental and neurodegenerative disorders such as autism, schizophrenia, and Alzheimer's disease and is typically studied using genetically modified cellular and animal models. Weak predictive capacity and poor translational value of these models urge for better human derived in vitro models. The implementation of human induced pluripotent stem cells (hiPSCs) allows studying pathologies in differentiated disease-relevant and patient-derived neuronal cells. However, the differentiation process and growth conditions of hiPSC-derived neurons are non-trivial. In order to study neuronal network formation and (mal)function in a fully humanized system, we have established an in vitro co-culture model of hiPSC-derived cortical neurons and human primary astrocytes that recapitulates neuronal network synchronization and connectivity within three to four weeks after final plating. Live cell calcium imaging, electrophysiology and high content image analyses revealed an increased maturation of network functionality and synchronicity over time for co-cultures compared to neuronal monocultures. The cells express GABAergic and glutamatergic markers and respond to inhibitors of both neurotransmitter pathways in a functional assay. The combination of this co-culture model with quantitative imaging of network morphofunction is amenable to high throughput screening for lead discovery and drug optimization for neurological diseases.
Notes: PMID:27819315; PMCID:PMC5098163
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