|
| 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 |
| E-mail(s) |
[email protected]
|
| 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)
|
|
| Relations |
| BioProject |
PRJNA524936 |
| SRA |
SRP187155 |
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