Generation of two H1 hESC sublines carrying deletions of RB1 exon 1/promoter in heterozygous or compound heterozygous state

Julia Menges; Martina Cremanns; Laura Steenpass

doi:10.1016/j.scr.2019.101517

Generation of two H1 hESC sublines carrying deletions of RB1 exon 1/promoter in heterozygous or compound heterozygous state

Stem Cell Res. 2019 Aug:39:101517. doi: 10.1016/j.scr.2019.101517. Epub 2019 Jul 29.

Authors

Julia Menges¹, Martina Cremanns², Laura Steenpass³

Affiliations

¹ Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Hufelandstr. 55, 45147 Essen, Germany.
² Institute of Transfusion Medicine, University Hospital Essen, University of Duisburg-Essen, Hufelandstr. 55, 45147 Essen, Germany; Department of Medical Microbiology, Ruhr-University Bochum, Universitätsstraße 150, 44801 Bochum, Germany.
³ Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Hufelandstr. 55, 45147 Essen, Germany. Electronic address: [email protected].

PMID: 31404748
DOI: 10.1016/j.scr.2019.101517

Abstract

Biallelic inactivation of the retinoblastoma tumor suppressor gene (RB1) causes formation of retinoblastoma, a retinal eye tumor occurring in early childhood. Using the CRISPR/Cas9 nickase system, exon 1 of RB1 was deleted, including the RB1 promoter. As a result, sublines were generated carrying deletions of RB1 exon 1/promoter on one or both alleles.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Alleles
CRISPR-Cas Systems / genetics
Exons / genetics*
Fluorescent Antibody Technique
Heterozygote
Humans
Karyotyping
Male
Microsatellite Repeats / genetics
Promoter Regions, Genetic / genetics*
Retinoblastoma / genetics*
Retinoblastoma Binding Proteins / genetics
Ubiquitin-Protein Ligases / genetics

Substances

RB1 protein, human
Retinoblastoma Binding Proteins
Ubiquitin-Protein Ligases