Generation of human embryonic stem cell line with heterozygous RB1 deletion by CRIPSR/Cas9 nickase


The Retinoblastoma 1 (RB1) tumor suppressor, a member of the Retinoblastoma gene family, functions as a pocket protein for the functional binding of E2F transcription factors. About 1/3 of retinoblastoma patients harbor a germline RB1 mutation or deletion, leading to the development of retinoblastoma. Here, we demonstrate generation of a heterozygous deletion of the RB1 gene in the H1 human embryonic stem cell line using CRISPR/Cas9 nickase genome editing. The RB1 heterozygous knockout H1 cell line shows a normal karyotype, maintains a pluripotent state, and is capable of differentiation to the three germline layers. Copyright © 2018 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Tu J, Huo Z, Liu M, Wang D, Xu A, Zhou R, Zhu D, Gingold J, Shen J, Zhao R, Lee DF
Journal Stem cell research
Publication Date 2018 Apr;28:29-32
PubMed 29414415
PubMed Central PMC5905711
DOI 10.1016/j.scr.2018.01.021

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