A Framework for Individualized Splice-Switching Oligonucleotide Therapy

Abstract

This RNA-seq dataset was generated and analyzed as described in Kim, Woo, de Gusmao, Zhao et al, "A Framework for Individualized Splice-Switching Oligonucleotide Therapy" Nature 2023. The RNA-seq dataset was obtained from cells derived from ataxia-telangiectasia (A-T) patients or their parents, and it comprises four groups: (1) RNA-seq of fibroblasts from an A-T patient with c.7865C>T (proband) and her mother and father. (2) RNA-seq of fibroblasts from an A-T patient with c.7865C>T (proband), transfected with ASOs (mock, NT-22, AT008, AT026). (3) RNA-seq of whole blood from an A-T patient with c.5763-1050A>G (DDP_ATCP_42) and three other A-T patients without the variant (DDP_ATCP_96, DDP_ATCP_103, DDP_ATCP_151). (4) RNA-seq of fibroblasts from an A-T patient with c.5763-1050A>G (DDP_ATCP_42), transfected with ASOs (naive, NT-22, AT043, AT056, AT057).