Homo sapiens
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA99545 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:Expression data from control and GAPLINC knock down human gastric cancer cell lines
2025-01-24 | E-GEOD-51651 | ExpressionAtlas
Project description:Down syndrome (trisomy 21) is the most common genetic cause of intellectual disability, but the precise molecular mechanisms underlying impaired cognition remain unclear. Elucidation of these mechanisms has been hindered by the lack of a model system that contains full trisomy of chromosome 21 (Ts21) in a human genome that enables normal gene regulation. To overcome this limitation,we created Ts21-induced pluripotent stem cells (iPSCs) from two sets of Ts21 human fibroblasts. One of the fibroblast lines had low level mosaicism for Ts21 and yielded Ts21 iPSCs and an isogenic control that is disomic for human chromosome 21 (HSA21). Differentiation of all Ts21 iPSCs yielded similar numbers of neurons expressingmarkers characteristic of dorsal forebrain neurons that were functionally similar to controls. Expression profiling of Ts21 iPSCs and their neuronal derivatives revealed changes in HSA21 genes consistent with the presence of 50% more genetic material as well as changes in non- HSA21 genes that suggested compensatory responses to oxidative stress. Ts21 neurons displayed reduced synaptic activity, affecting excitatory and inhibitory synapses equally. Thus, Ts21 iPSCs and neurons display unique developmental defects that are consistent with cognitive deficits in individuals with Down syndrome and may enable discovery of the underlying causes of and treatments for this disorder. Three independent RNA samples were collected from Down syndrome (DS) and control iPSCs between passages 24 and 48. Three independent RNA samples were collected from 30 day old neurons differentiated from Down syndrome (DS) and control iPSCs.
2013-07-09 | E-GEOD-48611 | biostudies-arrayexpress
Project description:Background: Down syndrome is the most common genetic cause of mental retardation in humans, occurring in ~1 in 800 newborns. It is caused by chromosome 21 trisomy. Disruption of the phenotype is thought to be the result of gene dosage imbalance. The aim of the study was to classify chromosome 21 genes according to their level of expression in Down syndrome. Results: Variations in chromosome 21 gene expression were analyzed in lymphoblastoid cell lines derived from 10 Down syndrome patients and 11 control individuals. Of the 359 genes and predictions displayed on a specifically designed high content chromosome 21 oligoarray, 132 genes were expressed in lymphoblastoid cell lines. By using a powerful statistical analysis, 58 genes were found overexpressed and 42 unchanged in cell lines from Down syndrome patients. Microarray data were validated by quantitative PCR on 10 genes. Conclusions: The 132 chromosome 21 genes expressed by derived lymphoblastoid cell lines were classified into four categories: Class I: 24 genes controlled by the gene dosage effect with an increase in expression in Down syndrome between 1.4 and 1.6; Class II: 14 amplified genes with expression ratio above 1.6; Class III: 32 compensated genes with expression ratio between 0.82 to 1.4 and Class IV: 30 genes with high variability between individuals. Class I and II genes are likely to be involved in the Down syndrome phenotype, in contrast to the compensated Class III genes; Class IV genes could account for the variable phenotypes observed in patients. Keywords: HSA21 gene expression in Down syndrome
2007-05-01 | GSE6408 | GEO
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Project description:Transcription profiling of cultured fibroblastic cell lines from Rett syndrome patients
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