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| 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
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| 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.
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| 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.
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| 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 |
| E-mail(s) |
frederic.ebstein@gmail.com
|
| Organization name |
French Institute of Health and Medical Research (Inserm)
|
| Department |
L'unité de recherche de l'institut du thorax, Inserm UMR 1087
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| Street address |
IRS-UN - 8 quai Moncousu - BP 70721
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| City |
Nantes |
| ZIP/Postal code |
44007 |
| Country |
France |
| |
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| Platforms (1) |
| GPL33300 |
nCounter Human AutoImmune Profiling Panel |
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| Samples (9)
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| Relations |
| BioProject |
PRJNA950994 |
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