@article{bibcite_7391,
  keywords = {Cells, Cultured, Cellular Reprogramming, DNA Copy Number Variations, Gene Expression Regulation, Genetic Variation, Genotype, Humans, induced pluripotent stem cells, Organ Specificity, Phenotype, Quality Control, Quantitative Trait Loci, Transcriptome},
  author = {Helena Kilpinen and Angela Goncalves and Andreas Leha and Vackar Afzal and Kaur Alasoo and Sofie Ashford and Sendu Bala and Dalila Bensaddek and Francesco Paolo Casale and Oliver J. Culley and Petr Danecek and Adam Faulconbridge and Peter W. Harrison and Annie Kathuria and Davis McCarthy and Shane A. McCarthy and Ruta Meleckyte and Yasin Memari and Nathalie Moens and Filipa Soares and Alice Mann and Ian Streeter and Chukwuma A. Agu and Alex Alderton and Rachel Nelson and Sarah Harper and Minal Patel and Alistair White and Sharad R. Patel and Laura Clarke and Reena Halai and Christopher M. Kirton and Anja Kolb-Kokocinski and Philip Beales and Ewan Birney and Davide Danovi and Angus I. Lamond and Willem H. Ouwehand and Ludovic Vallier and Fiona M. Watt and Richard Durbin and Oliver Stegle and Daniel J. Gaffney},
  title = {Common genetic variation drives molecular heterogeneity in human iPSCs},
  abstract = {Technology utilizing human induced pluripotent stem cells (iPS cells) has enormous potential to provide improved cellular models of human disease. However, variable genetic and phenotypic characterization of many existing iPS cell lines limits their potential use for research and therapy. Here we describe the systematic generation, genotyping and phenotyping of 711 iPS cell lines derived from 301 healthy individuals by the Human Induced Pluripotent Stem Cells Initiative. Our study outlines the major sources of genetic and phenotypic variation in iPS cells and establishes their suitability as models of complex human traits and cancer. Through genome-wide profiling we find that 5-46\% of the variation in different iPS cell phenotypes, including differentiation capacity and cellular morphology, arises from differences between individuals. Additionally, we assess the phenotypic consequences of genomic copy-number alterations that are repeatedly observed in iPS cells. In addition, we present a comprehensive map of common regulatory variants affecting the transcriptome of human pluripotent cells.},
  year = {2017},
  journal = {Nature},
  volume = {546},
  pages = {370-375},
  month = {2017-06-15},
  issn = {1476-4687},
  doi = {10.1038/nature22403},
  language = {eng},
}