Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome
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.
- 40 samples
- DAC: EGAC00001000259
- Technology: Illumina HiSeq 4000
- US DUO:0000026 (version: 2019-01-07)user specific restrictionThis data use modifier indicates that use is limited to use by approved users.
- PS DUO:0000027 (version: 2019-01-07)project specific restrictionThis data use modifier indicates that use is limited to use within an approved project.
- IS DUO:0000028 (version: 2019-01-07)institution specific restrictionThis data use modifier indicates that use is limited to use within an approved institution.
- RTN DUO:0000029 (version: 2019-01-07)return to database or resourceThis data use modifier indicates that the requestor must return derived/enriched data to the database/resource.
- GRU DUO:0000042 (version: 2019-01-07)general research useThis data use permission indicates that use is allowed for general research use for any research purpose.
NIHR-BR-RD Data Access Policy
Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.
| Study ID | Study Title | Study Type |
|---|---|---|
| EGAS00001004216 | Other |
This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.
| ID | File Type | Size | Located in | |
|---|---|---|---|---|
| EGAF00003442300 | fq.gz | 5.8 GB | ||
| EGAF00003442301 | fq.gz | 6.4 GB | ||
| EGAF00003442302 | fq.gz | 7.9 GB | ||
| EGAF00003442303 | fq.gz | 8.8 GB | ||
| EGAF00003442304 | fq.gz | 6.7 GB | ||
| EGAF00003442305 | fq.gz | 7.1 GB | ||
| EGAF00003442306 | fq.gz | 5.8 GB | ||
| EGAF00003442307 | fq.gz | 6.4 GB | ||
| EGAF00003442308 | fq.gz | 4.0 GB | ||
| EGAF00003442309 | fq.gz | 4.3 GB | ||
| EGAF00003442310 | fq.gz | 5.3 GB | ||
| EGAF00003442311 | fq.gz | 5.9 GB | ||
| EGAF00003442312 | fq.gz | 6.7 GB | ||
| EGAF00003442313 | fq.gz | 7.4 GB | ||
| EGAF00003442314 | fq.gz | 5.0 GB | ||
| EGAF00003442315 | fq.gz | 5.4 GB | ||
| EGAF00003442316 | fq.gz | 5.4 GB | ||
| EGAF00003442317 | fq.gz | 6.0 GB | ||
| EGAF00003442318 | fq.gz | 5.5 GB | ||
| EGAF00003442319 | fq.gz | 5.8 GB | ||
| EGAF00003442320 | fq.gz | 5.8 GB | ||
| EGAF00003442321 | fq.gz | 6.4 GB | ||
| EGAF00003442322 | fq.gz | 5.4 GB | ||
| EGAF00003442323 | fq.gz | 6.1 GB | ||
| EGAF00003442324 | fq.gz | 5.1 GB | ||
| EGAF00003442325 | fq.gz | 5.7 GB | ||
| EGAF00003442326 | fq.gz | 6.3 GB | ||
| EGAF00003442327 | fq.gz | 7.0 GB | ||
| EGAF00003442328 | fq.gz | 5.7 GB | ||
| EGAF00003442329 | fq.gz | 6.4 GB | ||
| EGAF00003442330 | fq.gz | 4.0 GB | ||
| EGAF00003442331 | fq.gz | 4.5 GB | ||
| EGAF00003442332 | fq.gz | 4.8 GB | ||
| EGAF00003442333 | fq.gz | 5.4 GB | ||
| EGAF00003442334 | fq.gz | 5.7 GB | ||
| EGAF00003442335 | fq.gz | 6.4 GB | ||
| EGAF00003442336 | fq.gz | 4.4 GB | ||
| EGAF00003442337 | fq.gz | 4.9 GB | ||
| EGAF00003442338 | fq.gz | 6.7 GB | ||
| EGAF00003442339 | fq.gz | 7.2 GB | ||
| EGAF00003442340 | fq.gz | 6.1 GB | ||
| EGAF00003442341 | fq.gz | 7.0 GB | ||
| EGAF00003442342 | fq.gz | 6.0 GB | ||
| EGAF00003442343 | fq.gz | 6.7 GB | ||
| EGAF00003442344 | fq.gz | 6.3 GB | ||
| EGAF00003442345 | fq.gz | 7.0 GB | ||
| EGAF00003442346 | fq.gz | 5.9 GB | ||
| EGAF00003442347 | fq.gz | 6.9 GB | ||
| EGAF00003442348 | fq.gz | 7.6 GB | ||
| EGAF00003442349 | fq.gz | 8.7 GB | ||
| EGAF00003442350 | fq.gz | 6.3 GB | ||
| EGAF00003442351 | fq.gz | 7.0 GB | ||
| EGAF00003442352 | fq.gz | 5.2 GB | ||
| EGAF00003442353 | fq.gz | 5.8 GB | ||
| EGAF00003442354 | fq.gz | 6.0 GB | ||
| EGAF00003442355 | fq.gz | 7.0 GB | ||
| EGAF00003442356 | fq.gz | 6.5 GB | ||
| EGAF00003442357 | fq.gz | 7.4 GB | ||
| EGAF00003442358 | fq.gz | 5.1 GB | ||
| EGAF00003442359 | fq.gz | 5.7 GB | ||
| EGAF00003442360 | fq.gz | 5.8 GB | ||
| EGAF00003442361 | fq.gz | 6.5 GB | ||
| EGAF00003442362 | fq.gz | 4.0 GB | ||
| EGAF00003442363 | fq.gz | 4.6 GB | ||
| EGAF00003442364 | fq.gz | 5.2 GB | ||
| EGAF00003442365 | fq.gz | 5.4 GB | ||
| EGAF00003442366 | fq.gz | 7.8 GB | ||
| EGAF00003442367 | fq.gz | 7.9 GB | ||
| EGAF00003442368 | fq.gz | 6.6 GB | ||
| EGAF00003442369 | fq.gz | 6.8 GB | ||
| EGAF00003442370 | fq.gz | 4.5 GB | ||
| EGAF00003442371 | fq.gz | 4.7 GB | ||
| EGAF00003442372 | fq.gz | 6.7 GB | ||
| EGAF00003442373 | fq.gz | 7.8 GB | ||
| EGAF00003442374 | fq.gz | 7.5 GB | ||
| EGAF00003442375 | fq.gz | 8.3 GB | ||
| EGAF00003442376 | fq.gz | 8.3 GB | ||
| EGAF00003442377 | fq.gz | 9.2 GB | ||
| EGAF00003442378 | fq.gz | 6.0 GB | ||
| EGAF00003442379 | fq.gz | 6.9 GB | ||
| 80 Files (495.8 GB) | ||||