RNA-seq of AMFR mutant human in vitro differentiated neural stem cells

ABSTRACT: We report transcriptome analysis of human in vitro differentiated neural stem cells (derived from H9 human embryonic stem cells), comparing wild type and AMFR homozygous knock-out mutant cells. To model a novel genetic disorder caused by bi-allelic loss-of-function variants in AMFR and to study the effects on the global transcriptome caused by the absence of AMFR, we generated knock-out mutant cells, by CRISPR-Cas9 genome editing, targetting exon 4. This resulted in frame shift mutations with absence of full length AMFR confirmed by Western blotting. Knockout mutant and wild type cells were then compared to determine differentially expressed genes.

ORGANISM(S): Homo sapiens

PROVIDER: GSE202141 | GEO | 2023/04/29

REPOSITORIES: GEO