Accession PRJCA022841
Title Research on the pathogenesis of TEMPI syndrome
Relevance Medical
Data types Whole genome sequencing
Transcriptome or Gene expression
Single cell sequencing
Organisms Homo sapiens
Description The TEMPI syndrome is a rare multi-systemic disease, characterize by telangiectasias, elevated erythropoietin and erythrocytosis, monoclonal gammopathy, perinephric fluid collections, and intrapulmonary shunting. Plasma cell is supposed to play a pathogenic role in the syndrome, but the underlying molecular mechanism remains poorly understood. Here we performing whole genome sequencing and RNA-sequencing and single cell RNA-sequencing to investigate the mechanism.
Sample scope Multiisolate
Release date 2024-06-01
Publication
PubMed ID Article title Journal name DOI Year
38634121 IRF4-BLOC1S5: the first rearrangement gene identified in TEMPI syndrome Haematologica 10.3324/haematol.2023.284727 2024
Grants
Agency program Grant ID Grant title
National Natural Science Foundation of China (NSFC) 82170195
Submitter Hua Yan (yh10834@rjh.com.cn)
Organization Ruijin Hospital, Shanghai jiaotong University School of Medicine
Submission date 2024-01-13

Project Data

Resource name Description
BioSample (4) -
SAMC3464106 TEMP Tumor scRNAseq
SAMC3464105 TEMP Tumor RNAseq
SAMC3464104 TEMP Tumor WGS
SAMC3464103 TEMP Normal WGS