iPSCORE: A Resource of 222 iPSC Lines Enabling Functional Characterization of Genetic Variation across a Variety of Cell Types

• DOI: 10.1016/j.stemcr.2017.03.012
• Publication Date: 2017-04-07T02:22:37Z
• Authors: Athanasia D. Pano...; Matteo D'Antonio; Paola Benaglio; Roy Williams; Sherin I. Hashem; Bernhard M. Schuldt; Christopher DeBoever; Angelo D. Arias; Melvin Garcia; Bradley C. Nelson; Olivier Harismendy; David A. Jakubosky; Margaret K.R. Don...; William W. Greenwald; KathyJean Farnam; Megan Cook; Victor Borja; Carl A. Miller; Jonathan D. Grins...; Frauke Drees; Jonathan Okubo; Kenneth E. Diffen...; Yuriko Hishida; Veronica Modesto; Carl T. Dargitz; Rachel Feiring; Chang Zhao; Aitor Aguirre; Thomas J. McGarry; Hiroko Matsui; He Li; Joaquin Reyna; Fangwen Rao; Daniel T. O'Connor; Gene W. Yeo; Sylvia M. Evans; Neil C. Chi; Kristen Jepsen; Naoki Nariai; Franz-Josef Müller; Lawrence S.B. Gol...; Juan Carlos Izpis...; Eric Adler; Jeanne F. Loring; W. Travis Berggren; Agnieszka D'Anton...; Erin N. Smith; Kelly A. Frazer
• Keywords: Variation (astronomy)

Large-scale collections of induced pluripotent stem cells (iPSCs) could serve as powerful model systems for examining how genetic variation affects biology and disease. Here we describe the iPSCORE resource: a collection systematically derived characterized iPSC lines from 222 ethnically diverse individuals that allows both familial association-based studies. are with high genomic integrity (no or low numbers somatic copy-number variants) determined using high-throughput RNA-sequencing genotyping arrays, respectively. Using iPSCs family individuals, show iPSC-derived cardiomyocytes demonstrate gene expression patterns cluster by background, can be used to examine variants associated physiological disease phenotypes. The contains representative risk non-risk alleles 95% SNPs human phenotypes through genome-wide association Our study demonstrates utility influence molecular traits in cell lines.