RNA-Seq of isogenic human iPS cell-derived cardiomyocytes with RBM20 mutations created by CRISPR/Cas9

RBM20 homozygous point mutation (P633L and R634Q), as well as homozygous frameshift deletion (S635FS) were created by CRISPR/Cas9 in an iPS cell line generated from a healthy individual. One clone that underwent the genome editing procedure without gaining a mutation in the RBM20 gene was selected and used as wild-type (WT) control, together with its parental control (WT-NC). All the iPSC lines were differentiated into iPSC-CMs via modulation of WNT signaling, selected via glucose starvation, and then matured for 4 more weeks before each experiment.

本研究利用CRISPR/Cas9技术，在一名健康个体来源的诱导多能干细胞（induced pluripotent stem cell, iPS）细胞系中构建了RBM20基因纯合点突变（homozygous point mutation，P633L、R634Q）及纯合移码缺失突变（frameshift deletion，S635FS）。选取一株经基因组编辑操作但未在RBM20基因中引入突变的克隆株作为野生型（wild-type, WT）对照，并以其亲本细胞作为亲本对照（WT-NC）。所有上述iPS细胞系均通过调控WNT信号通路诱导分化为诱导多能干细胞来源心肌细胞（induced pluripotent stem cell-derived cardiomyocyte, iPSC-CMs），随后经葡萄糖饥饿筛选，且在每次实验前均再成熟培养4周。