Mechanisms of failing erythropoiesis in Diamond-Blackfan anemia revealed by single cell profiling of human bone marrow progenitors

Single-cell RNAseq of CD34+Lineage negative hematopoietic stem and progenitor healthy control and DBA was performed to elucidate the transcriptional features of DBA haematopoiesis. Single cell transcriptional profiling using the 10x Genomics platform was performed on 45888 CD34+ Lineage- hematopoietic stem and progenitor cells FACS- isolated from 3 RPS-DBA samples, 3 RPL-DBA samples, and 3 healthy donor controls.