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 retinoblastom...

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Autores principales: Tu, Jian, Huo, Zijun, Liu, Mo, Wang, Donghui, Xu, An, Zhou, Ruoji, Zhu, Dandan, Gingold, Julian, Shen, Jingnan, Zhao, Ruiying, Lee, Dung-Fang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5905711/
https://www.ncbi.nlm.nih.gov/pubmed/29414415
http://dx.doi.org/10.1016/j.scr.2018.01.021
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author Tu, Jian
Huo, Zijun
Liu, Mo
Wang, Donghui
Xu, An
Zhou, Ruoji
Zhu, Dandan
Gingold, Julian
Shen, Jingnan
Zhao, Ruiying
Lee, Dung-Fang
author_facet Tu, Jian
Huo, Zijun
Liu, Mo
Wang, Donghui
Xu, An
Zhou, Ruoji
Zhu, Dandan
Gingold, Julian
Shen, Jingnan
Zhao, Ruiying
Lee, Dung-Fang
author_sort Tu, Jian
collection PubMed
description 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.
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spelling pubmed-59057112018-04-18 Generation of human embryonic stem cell line with heterozygous RB1 deletion by CRIPSR/Cas9 nickase Tu, Jian Huo, Zijun Liu, Mo Wang, Donghui Xu, An Zhou, Ruoji Zhu, Dandan Gingold, Julian Shen, Jingnan Zhao, Ruiying Lee, Dung-Fang Stem Cell Res Article 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. 2018-02-28 2018-04 /pmc/articles/PMC5905711/ /pubmed/29414415 http://dx.doi.org/10.1016/j.scr.2018.01.021 Text en http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Article
Tu, Jian
Huo, Zijun
Liu, Mo
Wang, Donghui
Xu, An
Zhou, Ruoji
Zhu, Dandan
Gingold, Julian
Shen, Jingnan
Zhao, Ruiying
Lee, Dung-Fang
Generation of human embryonic stem cell line with heterozygous RB1 deletion by CRIPSR/Cas9 nickase
title Generation of human embryonic stem cell line with heterozygous RB1 deletion by CRIPSR/Cas9 nickase
title_full Generation of human embryonic stem cell line with heterozygous RB1 deletion by CRIPSR/Cas9 nickase
title_fullStr Generation of human embryonic stem cell line with heterozygous RB1 deletion by CRIPSR/Cas9 nickase
title_full_unstemmed Generation of human embryonic stem cell line with heterozygous RB1 deletion by CRIPSR/Cas9 nickase
title_short Generation of human embryonic stem cell line with heterozygous RB1 deletion by CRIPSR/Cas9 nickase
title_sort generation of human embryonic stem cell line with heterozygous rb1 deletion by cripsr/cas9 nickase
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5905711/
https://www.ncbi.nlm.nih.gov/pubmed/29414415
http://dx.doi.org/10.1016/j.scr.2018.01.021
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