Epigenomic Profiling of H3K4me2 and H3K4me3 in Patient-Derived NPCs to Study L2HGDH Deficiency

Chromatin immunoprecipitation followed by sequencing (ChIP-seq) was performed to investigate the epigenetic landscape in neural progenitor cells (NPCs) derived from L2HGA patient iPSCs with or without correction of the pathogenic L2HGDH variant. We profiled histone modifications H3K4me2 and H3K4me3 as well as input control across four conditions: unedited Patient 1 NPCs, corrected Patient 1 NPCs, corrected NPCs treated with DMSO, and corrected NPCs treated with the KDM5 inhibitor C70. This dataset provides insight into enhancer and promoter activity at the MYC locus and genome-wide effects of L-2HG-associated epigenetic dysregulation.