Project description:To connect the neuronal developmental disorders associated GWAS signal to their target effector genes, we performed an integrated analysis of transcriptomics, epigenomics and chromatin conformation changes in an in vitro cellular model. Induced human pluripotent stem cell–derived neural progenitor cells (NPCs) were differentiated into neurons and then subjected to a combination of high-resolution promoter-focused Capture C, ATAC-seq and RNA-seq.
Project description:To connect the neuronal developmental disorders associated GWAS signal to their target effector genes, we performed an integrated analysis of transcriptomics, epigenomics and chromatin conformation changes in an in vitro cellular model. Induced human pluripotent stem cell–derived neural progenitor cells (NPCs) were differentiated into neurons and then subjected to a combination of high-resolution promoter-focused Capture C, ATAC-seq and RNA-seq.
Project description:To connect the neuronal developmental disorders associated GWAS signal to their target effector genes, we performed an integrated analysis of transcriptomics, epigenomics and chromatin conformation changes in an in vitro cellular model. Induced human pluripotent stem cell–derived neural progenitor cells (NPCs) were differentiated into neurons and then subjected to a combination of high-resolution promoter-focused Capture C, ATAC-seq and RNA-seq.
Project description:We studied human induced pluripotent stem cells (iPSCs)-derived dopaminergic (DA) neuron populations carrying CNVs of 16p11.2 duplication and 16p11.2 deletion.
Previously, healthy human iPSCs were edited using CRISPR-Cas9 method to produce isogenic lines with 16p11.2 deletion or 16p11.2 duplication. We differentiated these
isogenic iPSC lines into neural precursor cells and dopaminergic neurons and collected RNA samples for gene expression analyses with RNA sequencing. Our aim was to
identify differences in the expression of synaptic markers, neuronal differentiation markers, and neuron specific receptors that affect functionality of the neurons with 16p11.2
CNVs compared to isogenic control lines. We also studied physiological properties of these isogenic iPSC-derived DA neurons with 16p11.2 CNVs. In addition, we studied
expression and activation of a specific molecular pathway KCTD13-RHOA in the iPSC derived DA neuron populations with 16p11.2 CNVs.
Project description:Analysis of TERT-dependent global gene expression changes in iPSC-derived human AD neurons. The hypothesis tested in the present study was that TERT influences the regulation of gene expressions in the iPSC-derived human neurons. Results provide important information of the response of iPSC-derived neurons in presence and absence of TERT induction.