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RNA Sequencing Reveals Transcriptomic Changes in HEK293 Cells Following Introduction of rs16851030 DNA Variant

GSE252809 Homo sapiens Expression profiling by high throughput sequencing 6 samples Submitted 2024/03/01 Platform GPL24676
Summary
rs16851030, a single-nucleotide variant located in the 3’-untranslated region of the ADORA1 gene, has been proposed as a potential marker of caffeine sensitivity in apnea of prematurity, aspirin-induced asthma, and the development of acute chest syndrome. However, its functional significance is still unconfirmed. This study aimed to elucidate the functional impact of rs16851030 by using CRISPR/Cas9 approach to induce physiological changes associated with the DNA variant. rs16851030 was introduced into HEK293 cells through homology-directed repair. Edited cells were then fluorescence-enriched, sorted, isolated, and grown into single cell-derived clones. The single-base edit was confirmed by Sanger sequencing. Finally, RNA sequencing was performed to elucidate the pathways affected by rs16851030. Our study provides valuable information about key pathways associated with rs16851030 DNA variant.
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Direct links to NCBI, no account and no request form: the whole study as GSE252809_RAW.tar, processed values as the series matrix, the supplementary file directory, and per-sample supplementary files for any of the 6 samples. Raw sequencing reads are also available from ENA.

Also filed as BioProject PRJNA1062750 and SRA study SRP482703. Searching any of these in the dataset finder brings you back here.

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