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