We are currently using these lines to conduct genotype-molecular phenotype correlations in both pluripotent stem cells and a variety of iPSC-derived cell types including cardiomyocytes (iPSC-CMs), pancreatic precursor cells (iPSC-PPCs), and retina pigment epithelium cells (iPSC-RPEs). All individuals in iPSCORE have whole genome sequence data. Due to the fact that some of the individuals in the 41 families are only related by marriage, there are a total of 136 genetically unrelated individuals in the collection. The participants were recruited to include 41 families, twins, and individuals of diverse ethnicity to enable genetic studies investigating the segregation of traits. iPSCORE lines are pluripotent with high genomic integrity (no or low numbers of somatic CNVs) as determined using high-throughput RNA-seq and genotyping arrays, respectively. Over the past nine years, our lab has systematically derived and characterized a unique collection of iPSC lines from 222 individuals - iPSCORE. Induced pluripotent stem cells (iPSCs), derived from human adult cells and capable of being differentiated to become a variety of cell types, are a powerful tool for studying how genetic variants associate with human molecular phenotypes. IPSCORE (iPSC Collection for Omics Research)
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