项目编号 PRJCA022841
项目标题 Research on the pathogenesis of TEMPI syndrome
涉及领域 Medical
数据类型 Whole genome sequencing
Transcriptome or Gene expression
Single cell sequencing
物种名称 Homo sapiens
描述信息 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.
样品范围 Multiisolate
发布日期 2024-06-01
出版信息
PubMed ID 文章标题 杂志名称 Doi 发表年份
38634121 IRF4-BLOC1S5: the first rearrangement gene identified in TEMPI syndrome Haematologica 10.3324/haematol.2023.284727 2024
项目资金来源
机构 项目类型 授权项目ID 授权项目名称
National Natural Science Foundation of China (NSFC) 82170195
提交者 Hua Yan (yh10834@rjh.com.cn)
提交单位 Ruijin Hospital, Shanghai jiaotong University School of Medicine
提交日期 2024-01-13

项目包含数据信息

资源名称 描述
BioSample (4) -
SAMC3464106 TEMP Tumor scRNAseq
SAMC3464105 TEMP Tumor RNAseq
SAMC3464104 TEMP Tumor WGS
SAMC3464103 TEMP Normal WGS