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Series GSE193410 Query DataSets for GSE193410
Status Public on Feb 20, 2023
Title Human germline biallelic complete NFAT1 deficiency causes the triad of joint contractures, osteochondromas, and susceptibility to B cell malignancy [Single]
Organism Homo sapiens
Experiment type Expression profiling by high throughput sequencing
Summary We isolated peripheral blood mononuclear cells from whole blood from an NFAT1 deficient patient and 5 healthy controls. Cells were either treated with PMA (50ng/mL) + 1uM Ionomycin for 4 hours, or left untreated. Cells were then isolated in nanowells, and incubated with single mRNA-capture beads. mRNA from these beads were used for library preparation and sequenced. Raw counts were used for clustering analysis and differential expression. This analysis pointed to defects in NFAT1 deficient patient's B-cells and T-cells that could be contributing the observed B-cell malignancy
 
Overall design Single cell transcriptome profiling of NFAT1 deficient patient PBMCs against 5 healthy controls (3 family members and 2 age-matched sex-matched healthy controls), with or without stimulations (4hrs 50ng/mL PMA + 1uM Ionomycin)
Web link https://pubmed.ncbi.nlm.nih.gov/35789258/
 
Contributor(s) Sharma M, Fu MP, Lu HY, Sharma AA, Turvey SE
Citation(s) 35789258
Submission date Jan 10, 2022
Last update date Feb 22, 2023
Contact name Stuart E Turvey
E-mail(s) sturvey@cw.bc.ca
Organization name BC Children's Hospital Research Institute
Street address 938 W 28th Ave
City Vancouver
State/province BC
ZIP/Postal code V5Z 4H4
Country Canada
 
Platforms (1)
GPL30173 NextSeq 2000 (Homo sapiens)
Samples (2)
GSM5799817 Unstimulated
GSM5799818 PMAIonomycin_stimulated
This SubSeries is part of SuperSeries:
GSE193415 Human germline biallelic complete NFAT1 deficiency causes the triad of joint contractures, osteochondromas, and susceptibility to B cell malignancy
Relations
BioProject PRJNA796044

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Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE193410_RAW.tar 6.5 Mb (http)(custom) TAR (of TXT)
SRA Run SelectorHelp
Raw data are available in SRA
Processed data provided as supplementary file

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