样本编号 SAMC3478735
外部数据库编号 GSA-Human: HRS1206397
样品名称 SF3B1-K700E-1
样本标题 SF3B1-K700E-1
样品类型 Human sample
物种名称 Homo sapiens
描述信息 To compare the diversity of mis-splicing induced by SF3B10 different mutations.
样本属性
分离株名称 not collected
年龄
实验材料提供者 Zhaoqi Liu
性别 not applicable
组织器官 Skin
疾病名称
细胞系
细胞亚型
细胞类型
收集/保存方法
发育阶段
疾病分期
血统性(民族)
健康状况
核型
表型
人口
种族(人种)
类型
处理方法
采样日期 2022-01-17
用户自定义属性
发布日期 2025-10-21
项目编号 PRJCA024569
提交者 peiqi  xing  (liuzq@big.ac.cn)
提交单位 Beijing Institute of Genomics, Chinese Academy of Sciences
提交日期 2024-03-26

样本包含数据信息

资源名称 描述
GSA-Human (1) -
HRA007011  (Open Access) SF3B1 is the most frequently mutated splicing factor in human cancer. SF3B1 mutations lead to cryptic 3' splice site selection, and the splicing pattern demonstrates a clear hotspot and tumor lineage specificity. Here, we introduced the top two commonly mutated SF3B1 hotspots, K700E and R625, into human melanocytes, melanoma cell lines, and hematological cancer cell lines to compare the diversity of mis-splicing. Furthermore, we aimed to clarify the key functions induced by the SF3B1 R625H mutation, which drives oncogenesis in melanoma.