Transcriptional analysis of T cells derived from individuals with neurodevelopmental disorder carrying de novo heterozygous PSMC3 variants.. Transcriptional analysis of T cells derived from individuals with neurodevelopmental disorder carrying de novo heterozygous PSMC3 variants.

Gene expression profiling on T cells to investigate the effects of PSMC3 loss-of-function variants on the immune system using the Nanostring nCounter® Human AutoImmune Profiling Panel. Overall design: Peripheral blood mononuclear cells (PBMC) isolated from blood draws from patients and their parents (father and/or mother) were subjected to polyclonal stimulation with phytohemagglutinin (PHA) and interleukin-2 (IL-2) to expand naive T cells. After 3 weeks of culture, total RNA was isolated from resting T cells for gene expression analysis.