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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
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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 |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Blood draw | Procedure | One time intravenous blood draw |
|
| Measure | Description | Time Frame |
|---|---|---|
| improve the understanding and treatment of pediatric cardiovascular disease | This is a repository of blood samples that will be used into the future for medical research to improve the understanding and treatment of pediatric cardiovascular disease | up to 10 Years |
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Inclusion Criteria:
Exclusion Criteria:
N/A
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Any individual with or without pediatric cardiovascular disease
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Jade F Hayden, BSN | Contact | 16143555648 | jade.hayden@nationwidechildrens.org |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Nationwide Children's Hospital | Recruiting | Columbus | Ohio | 43205 | United States |
Protected health information will only be shared if subjects consent to future research section of informed consent form
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| ID | Term |
|---|---|
| D006330 | Heart Defects, Congenital |
| D006331 | Heart Diseases |
| ID | Term |
|---|---|
| D018376 | Cardiovascular Abnormalities |
| D002318 | Cardiovascular Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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| ID | Term |
|---|---|
| D001800 | Blood Specimen Collection |
| ID | Term |
|---|---|
| D013048 | Specimen Handling |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
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6-12mL blood sample depending on age of patient
| D011677 | Punctures |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |