| 项目编号 |
PRJCA019603 |
| 项目标题 |
Slc7a7 mutation causing Hemophagocytic Lymphohistiocytosis: a case report |
| 涉及领域 |
Medical |
| 数据类型 |
Exome
Genome sequencing
Single cell sequencing
|
| 物种名称 |
Homo sapiens
|
| 描述信息 |
Hemophagocytic syndromes (HLH) caused by mutations in the slc7a7 gene are known to be either pure synonymous mutations or compound mutations on both alleles, and there are few case reports of HLH caused by Slc7a7 shifted-code mutations. Here, we collected data from a patient with HLH who was admitted to the ICU and whose whole-exome sequencing showed a slc7a7 shifted-code mutation on one allele. We used the remaining samples from the blood clinical tests, extracted the pbmc for single-cell sequencing, and collected the patient's clinical data to explore the correlation between the one allele mutation of Slc7a7 and hemophagocytic syndrome, which will facilitate the subsequent study of the molecular mechanism. |
| 样品范围 |
Single cell |
| 发布日期 |
2025-09-07 |
| 项目资金来源 |
| 机构 |
项目类型 |
授权项目ID |
授权项目名称 |
| No funding support
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| 提交者 |
GU
SILAN (Gusilan@zju.edu.cn)
|
| 提交单位 |
First Affiliated Hospital, Zhejiang University |
| 提交日期 |
2023-09-07 |
