RNA-Seq of isogenic human iPS cell-derived cardiomyocytes with RBM20 mutations created by genome editing [RNA-Seq]. RNA-Seq of isogenic human iPS cell-derived cardiomyocytes with RBM20 mutations created by genome editing [RNA-Seq]

RBM20 heterozygous (Het) and homozygous (Homo) R636S and homozygous 8-bp deletion (which causes nonsense-mediated decay) mutations were created by genome editing in an iPS cell line generated from a healthy male patient. Those cells were differentiated into cardiomyocytes by modulating the WNT signaling pathway, and then are subjected to the lactate purification method. Overall design: RNAseq of iPS cell-derived cardiomyocytes with 4 different genotypes as replicates

本研究通过基因组编辑技术，在一株由健康男性供体体细胞重编程获得的诱导多能干细胞（induced pluripotent stem cell, iPSC）系中构建了RBM20基因的杂合与纯合R636S突变，以及可引发无义介导的mRNA降解（nonsense-mediated decay）的纯合8碱基缺失（8-bp deletion）。随后通过调控WNT信号通路，将上述细胞定向分化为心肌细胞，再经乳酸纯化法处理。实验整体设计为：对4种不同基因型的诱导多能干细胞来源心肌细胞设置生物学重复，开展RNA测序（RNA sequencing, RNA-seq）。