EIF2AK1-mediated signaling drives SF3B1 mutation-induced arrest in terminal erythroid differentiation in myelodysplastic syndrome with ringed sideroblasts

SF3B1 mutations, which occur in 20% of patients with myelodysplastic syndromes (MDS), are the hallmarks of a specific MDS subtype, MDS with ringed sideroblasts (MDS-RS), which is characterized by the accumulation of erythroid precursors in the bone marrow. Overall design: Single cell ATAC sequencing and single cell RNA sequencing on Lin-CD34+ cells and mononuclear cells from primary SF3B1-mutant MDS-RS samples UPDATE: [Aug-11-2025] The cell type for Sample GSM5678325 was corrected from "Lin-CD34+" to "bone marrow mononuclear cells".