| Accession | SAMC2309291 |
|---|---|
| Accession in Other Database | GSA-Human: HRS439824 |
| Sample name | F1_proband |
| Title | Novel heterozygous mutation in DES responsible for cardiomyopathy cardiomyopathy and sudden cardiac death in a Chinese family |
| Sample type | Human sample |
| Organism | Homo sapiens |
| 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. |
| Attributes | *This sample record contains additional controlled-access information that is avaiable from GSA-Human by requesting study HRA002969 in the GSA-Human system. |
| Release date | 2022-09-03 |
| BioProject Accession | PRJCA011570 |
| Submitter | Liangliang Fan (swfanliangliang@csu.edu.cn) |
| Organization | Central South University |
| Submission date | 2023-06-18 |
| Resource name | Description |
|---|---|
| GSA-Human (1) | - |
| HRA002969 (Controlled Access) | We identified a novel DES mutation (p.E434K) in a Chinese family with cardiomyopathy and SCD. Our study not only provided a new case for the study of the relationship between DES mutations and hereditary cardiomyopathy, but also broadened the spectrum of DES mutations. |