样本编号	SAMC2492870
外部数据库编号	GSA-Human: HRS548634
样品名称	22159
样本标题	Whole exome sequencing of human peripheral blood D217
样品类型	Human sample
物种名称	Homo sapiens
描述信息	peripheral blood of patient 217 with coronary artery disease
样本属性	*由于样本关联的数据集HRA003888尚未在科技部完成人类遗传资源信息备案，本页面只展示部分样本信息。
发布日期	2023-08-30
项目编号	PRJCA013874
提交者	Jianan Wang (wang_jian_an@tom.com)
提交单位	The Second Affiliated Hospital, Zhejiang University School of Medicine
提交日期	2023-06-18

样本包含数据信息

资源名称	描述
GSA-Human (1)	-
HRA003888 (Open Access)	The morpholino-based ADAMTS family genes-targeted screening in zebrafish combined with DNA sequencing on a 304 cohort BAV patient were initially carried out to identify the potential related genes. The related genetic mouse models (both knock-out and knock-in) using CRISPR-Cas9 method were generated to further study the roles of ADAMTS family genes. Immunohistochemistry using different antibodies was done to describe the phenotype of cardiac valve anomaly, especially the ECM components. The bulk RNA-sequencing was used to investigate the signaling pathways involved. The inducible pluripotent stem cells derived from the patients were used to study and confirm the gene function.

资源名称

描述

GSA-Human (1)

HRA003888 (Open Access)

The morpholino-based ADAMTS family genes-targeted screening in zebrafish combined with DNA sequencing on a 304 cohort BAV patient were initially carried out to identify the potential related genes. The related genetic mouse models (both knock-out and knock-in) using CRISPR-Cas9 method were generated to further study the roles of ADAMTS family genes. Immunohistochemistry using different antibodies was done to describe the phenotype of cardiac valve anomaly, especially the ECM components. The bulk RNA-sequencing was used to investigate the signaling pathways involved. The inducible pluripotent stem cells derived from the patients were used to study and confirm the gene function.