Effects of SF3B1 mutation on blast cells from patients with MDS. Effects of SF3B1 mutation on blast cells from patients with MDS

Effects of SF3B1 mutation on blast cells from patients with MDS Overall design: Here we isolated bone marrow blast cells from 7 patients with myelodysplastic syndrome (MDS): 4 patients with the SF3B1 -K700E mutation and 3 patients without SF3B1, U2AF1, or SRSF2 mutations (WT). RNA was prepared and RNAseq performed to determine the effects of SF3B1-K700E on gene expression and pre-mRNA splicing. WT (n=3), K700E (n=4)SF3B1突变对骨髓增生异常综合征（Myelodysplastic Syndrome, MDS）患者骨髓原始细胞的影响 实验设计概述：本研究从7例骨髓增生异常综合征患者中分离骨髓原始细胞，其中4例携带SF3B1-K700E突变，3例未携带SF3B1、U2AF1及SRSF2突变（野生型，WT）。随后制备RNA并开展RNA测序，以明确SF3B1-K700E突变对基因表达及前体mRNA剪接的影响。野生型样本（n=3），K700E突变型样本（n=4）