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Effect of PTCHD1 SNV and truncating variants on gene expression during differentiation of iPSCs to neural progenitor cells

ABSTRACT: To investigate whether a SNV in the gene PTCHD1 was disease causative, we introduced the variant to KOLF-2 iPSCs via CRISPR/Cas9 homology directed repair. Three experimentally matched SNV and WT clones and two clones with truncating mutations were generated, and neural induction was induced. We then performed gene expression profiling analysis using data obtained from RNA-seq of these cells at two timepoints (day 0 and day 24 of neural induction).

ORGANISM(S): Homo sapiens

PROVIDER: GSE227711 | GEO | 2023/11/19

REPOSITORIES: GEO

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Effect of PTCHD1 SNV and truncating variants on gene expression during differentiation of iPSCs to neural progenitor cells

Project description:Effect of PTCHD1 SNV and truncating variants on gene expression during differentiation of iPSCs to neural progenitor cells

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Synaptic dysfunction in human neurons with Autism associated deletions in PTCHD1-AS

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