Generation of two H1 hESC sublines carrying a heterozygous and homozygous knock-out of RB1

• DOI: 10.1016/j.scr.2017.07.005
• Publication Date: 2017-07-11T20:00:49Z
• Authors: Laura Steenpass
• Keywords: Retinoblastoma; Heterozygote advantage

Retinoblastoma is a childhood cancer of the retina caused by biallelic inactivation tumor suppressor gene RB1. In heritable retinoblastoma, one allele inherited in mutant form via parental germ cells. To study molecular mechanisms two sublines H1 hESCs were generated, carrying knock-out RB1 heterozygous or homozygous state. Exon 3 was targeted and modified nucleotide deletions using CRISPR/Cas9 nuclease system. Based on nearby single polymorphism, modification could be assigned to allele.