期刊
NATURE
卷 546, 期 7658, 页码 370-+出版社
NATURE PORTFOLIO
DOI: 10.1038/nature22403
关键词
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资金
- Wellcome Trust [WT090851]
- UK Medical Research Council [WT098503]
- MRC eMedLab Medical Bioinformatics career development award from the UK Medical Research Council [MR/L016311/1]
- Department of Health via the NIHR Biomedical Research Centre
- BBSRC [BB/M020991/1] Funding Source: UKRI
- EPSRC [TS/H001220/1] Funding Source: UKRI
- MRC [MC_PC_12026, G0801843] Funding Source: UKRI
- Biotechnology and Biological Sciences Research Council [BB/M020991/1] Funding Source: researchfish
- Engineering and Physical Sciences Research Council [TS/H001220/1] Funding Source: researchfish
- Fight for Sight [1848/49] Funding Source: researchfish
- Great Ormond Street Hospital Childrens Charity [V1296] Funding Source: researchfish
- Medical Research Council [1365667, MC_PC_12009, G0801843, MC_PC_12026] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0513-10008, NF-SI-0513-10151] Funding Source: researchfish
- The British Council [216377911] Funding Source: researchfish
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.
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