| Accession | HRS439824 |
|---|---|
| BioSample Accession | SAMC2309291 |
| Individual accession | HRI274818 |
| Study accession | HRA002969 |
| Sample name | F1_proband |
| Sample title | Novel heterozygous mutation in DES responsible for cardiomyopathy cardiomyopathy and sudden cardiac death in a Chinese family |
| Collection date | 2020-12-01 |
| Sample Type | Disease |
| Description | We enrolled a Chinese family where the affected individuals suffered from cardiomyopathy and sudden cardiac death. The proband was selected for whole-exome sequencing to identify the pathogenic mutations in this family. |
| Tissue | blood |
| Age | 50(year) |
| Release date | 2022-09-03 |