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Accession: PRJNA175062 ID: 175062

Homo sapiens (human)

Transcriptome analysis in peripheral blood mononuclear cells (PBMC) from HOIL-1-deficient patients upon TNF-α or IL-1β stimulation

See Genome Information for Homo sapiens
HOIL-1 deficient disease is a new early onset fatal autosomal recessive human disorder charaterized by chronic auto-inflammation, recurrent invasive bacterial infections and progressive muscular amylopectinosis. More...
AccessionPRJNA175062; GEO: GSE40838
Data TypeTranscriptome or Gene expression
ScopeMultiisolate
OrganismHomo sapiens[Taxonomy ID: 9606]
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo; Homo sapiens
PublicationsBoisson B et al., "Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency.", Nat Immunol, 2012 Dec;13(12):1178-86
SubmissionRegistration date: 12-Sep-2012
Virginia Pascual, Baylor Institute for Immunology Research, Baylor Research Institute
RelevanceMedical
Project Data:
Resource NameNumber
of Links
Publications
PubMed1
PMC1
Other datasets
GEO DataSets1
GEO Data Details
ParameterValue
Data volume, Spots2129535
Data volume, Processed Mbytes63
Data volume, Supplementary Mbytes13

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