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Series GSE127572 Query DataSets for GSE127572
Status Public on Mar 01, 2019
Title Transcriptomic profiling of cleavage-resistant RIPK1 induced autoinflammation syndrome patients
Organism Homo sapiens
Experiment type Expression profiling by high throughput sequencing
Summary RIPK1 is known to play an important role in TNF induced immune signaling. We have identified three pedigrees with heterozygos mutations in RIPK1 that disrupts its cleavage. We studied the transcriptional profiles of whole blood from one patient.
Overall design RNAseq using the whole blood of a patient having heterozygous mutation in RIPK1 cleavage site (p.D324Y)
Contributor(s) Oda H, Kastner DL
Citation(s) 31827281
Submission date Feb 28, 2019
Last update date Jan 02, 2020
Contact name Daniel L Kastner
Organization name NIH
Department NHGRI
Street address 9000 Rockville Pike
City Bethesda
State/province MD
ZIP/Postal code 20892
Country USA
Platforms (1)
GPL21290 Illumina HiSeq 3000 (Homo sapiens)
Samples (8)
GSM3636147 C1_rep1
GSM3636148 C1_rep2
GSM3636149 C2_rep1
BioProject PRJNA524936
SRA SRP187155

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Supplementary file Size Download File type/resource
GSE127572_GeneCount.total_mapped_read_normalized.txt.gz 938.7 Kb (ftp)(http) TXT
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Raw data are available in SRA
Processed data are available on Series record

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