Generation and characterization of three CRISPR/Cas9 edited RB1 null hiPSC lines for retinoblastoma disease modelling


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 RB1 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. Copyright © 2024 Hyderabad Eye Research Foundation, LV Prasad Eye Institute. Published by Elsevier B.V. All rights reserved.

Authors Agrawal T, Maddileti S, Mariappan I
Journal Stem cell research
Publication Date 2024 Apr;76:103373
PubMed 38452707
DOI 10.1016/j.scr.2024.103373

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