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Biological insights from the whole genome sequences of human embryonic stem cell lines

Human embryonic stem cells (hESCs) are a powerful tool for the study of human development and can form the basis of cellular disease models or therapies. However, the genetic make-up and stability of hESCs has not been systematically studied at a genome-wide level with single nucleotide resolution. We therefore sequenced the whole genome and whole exomes of widely available hESC. This online resource will enable investigators to access raw sequencing data in order to interrogate cell lines for different disease- and trait-associated genetic variants.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001003446 HiSeq X Ten 15
Publications Citations
Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations.
Nature 545: 2017 229-233
259