Study ID Alternative Stable ID Type
EGAS00001000803 Whole Genome Sequencing

Study Description

Analysis of mutational signatures arising in vivo in humans. iPS cells from control patients and100 patients carrying known mutations in DNA repair/editing genes will be generated, andsequenced.Blood from the patients will also be used to generate reference 'germline' sequence data.

Study Datasets 1 dataset.

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
Human Induced Pluripotent Stem Cells (hiPSC) are an established patient-specific model system where opportunities are emerging for cell-based therapies. We compared and contrasted hiPSCs derived from different tissues, skin and blood, in the same individual. We show extensive single-nucleotide mutagenesis in all hiPSC lines, although fibroblast-derived hiPSCs (F-hiPSCs) are particularly heavily mutagenized by ultraviolet (UV)-related damage. We utilized genome sequencing data on 454 F-hiPSCs ... (Show More)
HiSeq X Ten 86

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