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Series GSE228675 Query DataSets for GSE228675
Status Public on Mar 30, 2024
Title Transcriptional analysis of T cells derived from individuals with neurodevelopmental disorder carrying de novo heterozygous PSMC3 variants.
Organism Homo sapiens
Experiment type Expression profiling by array
Summary 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.
Contributor(s) Ebstein F, Studencka-Turski M
Citation(s) 37256937
Submission date Mar 31, 2023
Last update date Jul 01, 2024
Contact name Frédéric Ebstein
Organization name French Institute of Health and Medical Research (Inserm)
Department L'unité de recherche de l'institut du thorax, Inserm UMR 1087
Street address IRS-UN - 8 quai Moncousu - BP 70721
City Nantes
ZIP/Postal code 44007
Country France
Platforms (1)
GPL33300 nCounter Human AutoImmune Profiling Panel
Samples (9)
GSM7134838 PATIENT_#13
GSM7134840 PATIENT_#17
BioProject PRJNA950994

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE228675_RAW.tar 90.0 Kb (http)(custom) TAR (of RCC)
Processed data included within Sample table

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