Biospecimens and Cell Models Core

PROJECT SUMMARY The overall goal of the Biospecimens and Cell Models Core is to provide human biospecimens for biomarker discovery for early ADPKD progression, offer an assortment of biomaterials from human ADPKD and normal kidneys for translational research, and assist investigators with in vitro PKD assays to test hypotheses and evaluate potential therapeutic targets. The Core will maintain and expand the PKD biospecimen repository of sera, plasma, peripheral blood mononuclear cells (PBMCs), urine, and urinary extracellular vesicles (exosomes) from the multi-center longitudinal Early PKD Observational Cohort (EPOC) study of children and young adults with early ADPKD. In addition, the Core will bank biospecimens obtained from undiagnosed siblings of the ADPKD patients, and unaffected siblings and normal healthy volunteers that will serve as control subjects. The Core will also maintain a repository of frozen freshly obtained tissues, formalin-fixed paraffin-embedded tissues, cyst fluids, primary cultures of ADPKD cyst epithelial cells, sera, plasma, urine, and urinary extracellular vesicles (exosomes), obtained from ADPKD patients at the time of nephrectomy. The aims of the proposal are (1) To provide human biospecimens, including sera, plasma, PBMCs, urine, and urinary exosomes, from children and young adults with ADPKD and normal controls for biomarker discovery. (2) To provide human biomaterials, including frozen and fixed tissues, cyst fluids, DNA, RNA, and primary cells from ADPKD and normal human kidneys, and (3) To assist investigators with in vitro PKD assays.