Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias
Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias
Human induced pluripotent stem cells (hiPSCs) have driven a paradigm shift in the modeling of
 human disease; the ability to reprogram patient-specific cells holds the promise of an
 enhanced understanding of disease mechanisms and phenotypic variability, with applications in
 personalized predictive pharmacology/toxicology, cell therapy and regenerative medicine. This
 research will collect blood or skin biopsies from patients and healthy controls for the
 purpose of generating cell and tissue models of Mendelian heritable forms of heart disease
 focusing on cardiomyopathies, channelopathies and neuromuscular diseases. Cardiomyocytes
 derived from hiPSCs will provide a ready source of disease specific cells to study
 pathogenesis and therapeutics.
Further study details as provided by Gordon F. Tomaselli, Johns Hopkins University:

 Biospecimen Retention: Blood or tissue samples, hiPSCs and cardiomyocytes reprogrammed from
 hiPSCs Eligible patients will be approached and the study will be explained in full as a part
 of obtaining informed consent for the study. The subjects will have an opportunity to ask
 questions about the study. Control subjects, often but not exclusively family member that
 meet the eligibility criteria will undergo a similar procedure for informed consent. Subjects
 will be evaluated in clinic and will have a 1-3 mm skin biopsy or blood draw (30 cc). The
 subjects will be asked about their medical history during the clinic visit but this
 information will not be transmitted to the research laboratories where the iPSCs are
 generated and re-programmed, only the disease genotype will be associated with the samples.
 The samples that will be frozen and stored are whole blood, white blood cells, skin biopsies,
 hiPSCs and reprogrammed cardiomyocytes.
Inclusion Criteria:

 -  All patients and family members 18 years of age or older with inherited cardiac
 arrhythmias including LQTS, Brugada Syndrome (BrS), cathecholaminergic polymorphic
 ventricular tachycardia (CPVT) or early repolarization syndrome (ERS) are eligible for
 enrollment.

 -  All enrolled patients will have undergone clinically indicated genetic testing.

 Exclusion Criteria:

 -  Age <18 years

 -  >85 years

 -  pregnant women

 -  life-limiting co-morbidities

 -  immunocompromise