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.
- 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
- All enrolled patients will have undergone clinically indicated genetic testing.
- Age <18 years
- >85 years
- pregnant women
- life-limiting co-morbidities