Gene expression profiling by RNAseq of multiple cell types derived from patients with LSD1 mutations and healthy controls, and in isogenic cell lines with LSD1 mutation introduced by CRISPR-Cas9

Cell lines (fibroblasts, reprogrammed from them hiPSCs and differentiated from hiPSCs endoderm, mesoderm and neuronal cells) derived from two male CPRF patients carrying distinct LSD1 mtuations and their healthy fathers as controls were subjected to gene expression analysis by bulk RNAseq to identify mis-regulated genes. Some cell lines were subject to treatment with HDAC inhibitor valproic acid (VPA) or DMSO as controls and also underwent RNAseq analysis. Two isogenic LSD1 mutant hiPSC lines with CRISPR-edited Family B LSD1 mutation were also used for RNAseq analysis (after endoderm differentiation, with or without VPA treatment).

• Type: RNASeq
• Archiver: European Genome-phenome Archive (EGA)