Whole-genome sequencing of the CRISPR/Cas9-generated cell lines G12LS and C07 carrying a heterozygous and homozygous mutation in the RB1 gene and their parental human embryonic stem cell line H9.

Heterozygous and homozygous mutations were introduced to the human embryonic stem cell line H9 by using the CRISPR/Cas9-system. Since off-target effects can occur and high numbers of SNVs can be acquired during clonal selection, the generated cell lines and the parental cell line were analyzed by whole-genome sequencing.

研究人员借助CRISPR/Cas9系统（CRISPR/Cas9-system），在人胚胎干细胞系H9中引入杂合（heterozygous）与纯合（homozygous）突变。由于该系统可能引发脱靶效应（off-target effects），且克隆筛选过程中可能积累大量单核苷酸变异（Single Nucleotide Variants, SNVs），研究人员对所生成的细胞系及其亲本细胞系进行了全基因组测序（whole-genome sequencing）分析。