Complete loss of RB1 causes retinoblastoma. Here, we report the generation of three RB1 iPSC lines using CRISPR/Cas9 based editing at exon 18 of in a healthy control hiPSC line. The edited cells were clonally expanded, genotyped and characterized to establish the mutant lines. Two of the mutant lines are compound heterozygous, with different in-del mutations in each of their alleles, while the third mutant line is homozygous, with identical edits in both alleles. All lines maintained their stemness, pluripotency, formed embryoid bodies with cell types of all three lineages, displayed a normal karyotype and lost RB1 expression.

中文翻译：

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用于视网膜母细胞瘤疾病模型的三个 CRISPR/Cas9 编辑的 RB1 null hiPSC 系的生成和表征

RB1 完全丧失会导致视网膜母细胞瘤。在这里，我们报告了在健康对照 hiPSC 系中使用基于 CRISPR/Cas9 的外显子 18 编辑产生了 3 个 RB1 iPSC 系。对编辑后的细胞进行克隆扩增、基因分型和表征，以建立突变系。其中两个突变系是复合杂合的，每个等位基因具有不同的插入-缺失突变，而第三个突变系是纯合的，两个等位基因具有相同的编辑。所有系均保持其干性、多能性，形成具有所有三个谱系细胞类型的胚状体，显示正常核型并失去 RB1 表达。