Whole Genome Sequencing of an isogenic Huntington's disease allelic series in human embryonic stem cells

Huntington’s disease (HD) is a fatal neurodegenerative disease caused by expansion of CAG repeats in the Huntingtin gene (HTT). Neither its pathogenic mechanisms nor the normal functions of HTT are well understood. To model HD in humans, we used CRISPR/Cas9 technology to engineer a genetic allelic series of isogenic hESC lines with graded increases in CAG-repeat length. We performed whole genome sequencing of a subset of the lines to assess genetic integrity after the gene-editing procedure.