Pluto Bioinformatics

GSE117248: Isogenic hPSC model of Fragile X Syndrome reveals COMT deficiency coupled with neurodevelopmental defects

Bulk RNA sequencing

We report the generation of isogenic hPSC model of FXS and characterize the neurodevelopmental capacity of these cells, performed transcriptome profiling in FXS neurons and identified key pathways that point to deficiency in cathecol-metabolizing enzymes SOURCE: Kagistia,Hana,Utami ( - Translational Laboratory in Genetic Medicine

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