IPSC Repository of Pediatric Cardiovascular Disease
Purpose
Obtain blood samples for generation and maintenance of induced pluripotent stem cells (iPSCs) and genomic/DNA sequencing for biomedical research that will improve the understanding and treatment of pediatric cardiovascular disease
Conditions
- Congenital Heart Disease
- Heart Diseases
Eligibility
- Eligible Ages
- All ages
- Eligible Sex
- All
- Accepts Healthy Volunteers
- Yes
Inclusion Criteria
- The subjects must have the diagnosis of cardiovascular disease 2. The subject must have a syndrome associated with cardiovascular disease 3. The subject must be related to an individual in cohort 1 or 2 4. The subject is considered a control and does not fall into any of the other cohorts
Exclusion Criteria
N/A
Study Design
- Phase
- Study Type
- Observational
- Observational Model
- Family-Based
- Time Perspective
- Prospective
Arm Groups
| Arm | Description | Assigned Intervention |
|---|---|---|
| Affected Subjects | The subjects must have the diagnosis of cardiovascular disease |
|
| Syndromes associated with Cardiovascular Disease | The subject must have a syndrome associated with cardiovascular disease |
|
| Family Members | The subject must be related to an individual in cohort 1 or 2 |
|
| Controls | The subject is considered a control and does not fall into any of the other cohorts |
|
Recruiting Locations
Columbus, Ohio 43205
More Details
- Status
- Recruiting
- Sponsor
- Mingtao Zhao
Detailed Description
Human induced pluripotent stem cells (iPSCs) are a type of pluripotent stem cell which can be generated from easily accessible patient cells, such as peripheral blood mononuclear cells and skin fibroblasts. As iPSCs are epigenetically reprogrammed from somatic cells, they retain all genetic information of the affected patients, thus providing an ideal model for studying the contribution of genetic variation to pediatric cardiovascular disease. In addition, human iPSCs can be differentiated into cardiomyocytes, endothelial cells, smooth muscle cells and cardiac fibroblasts, which are major affected cell types in the heart responsible for cardiovascular disease. Therefore, patient-specific iPSCs possess great promise in modeling pediatric cardiovascular disease, discovering novel drugs and prospective cell regeneration therapy. The DNA from these patients will be analyzed for point mutations, rare sequence variations, single nucleotide polymorphisms in known cardiac development genes or for chromosomal copy number changes by using state of the art genetic approaches.