Dataset
Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome
| Dataset ID | Technology | Samples |
|---|---|---|
| EGAD00001005950 | Illumina HiSeq 4000 | 40 |
Dataset Description
Gray Platelet Syndrome (GPS) is a rare recessive bleeding disorder resulting from biallelic variants in NBEAL2. As part of a comprehensive evaluation of the phenotype and genotype in 47 patients with GPS, four different blood cell-types (platelets, neutrophils, monocytes, and CD4-lymphocytes) were evaluated using bulk RNA-seq in five patients and five controls. These data are deposited in this archive in FASTQ format.
Data Use Conditions
US PS IS RTN
See further information on Data Use Conditions
| Label | Code | Version | Modifier |
|---|---|---|---|
| general research use | DUO:0000042 | 2019-01-07 | |
| user specific restriction | DUO:0000026 | 2019-01-07 | |
| project specific restriction | DUO:0000027 | 2019-01-07 | |
| institution specific restriction | DUO:0000028 | 2019-01-07 | |
| return to database or resource | DUO:0000029 | 2019-01-07 |
