Human induced pluripotent stem cells generated from a patient with a homozygous L272P mutation in the OTULIN gene (NIHTVBi014-A)

We have successfully generated induced pluripotent stem cells (iPSC) from dermal fibroblasts of a patient with a homozygous p.Leu272Pro mutation in the gene encoding the linear deubiquitinase OTULIN. Biallelic loss of function mutations in this gene are responsible for the OTULIN deficiency termed O...

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Autores principales: Chen, Daniel, Li, Zhongwen, Liu, Yangtengyu, Sampaio, Natalia, Yang, Dan, Aksentijevich, Ivona, Boehm, Manfred, Chen, Guibin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7855794/
https://www.ncbi.nlm.nih.gov/pubmed/32721894
http://dx.doi.org/10.1016/j.scr.2020.101921
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author Chen, Daniel
Li, Zhongwen
Liu, Yangtengyu
Sampaio, Natalia
Yang, Dan
Aksentijevich, Ivona
Boehm, Manfred
Chen, Guibin
author_facet Chen, Daniel
Li, Zhongwen
Liu, Yangtengyu
Sampaio, Natalia
Yang, Dan
Aksentijevich, Ivona
Boehm, Manfred
Chen, Guibin
author_sort Chen, Daniel
collection PubMed
description We have successfully generated induced pluripotent stem cells (iPSC) from dermal fibroblasts of a patient with a homozygous p.Leu272Pro mutation in the gene encoding the linear deubiquitinase OTULIN. Biallelic loss of function mutations in this gene are responsible for the OTULIN deficiency termed Otulipenia or OTULIN-related autoinflammatory syndrome (ORAS). The iPSC carrying homozygous L272P OTULIN gene mutations are phenotypically normal and they have capacity to differentiate toward the three germ layers. These iPSC have great potential to study the role of linear ubiquitination in the regulation of immune responses and other cellular pathways.
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spelling pubmed-78557942022-01-20 Human induced pluripotent stem cells generated from a patient with a homozygous L272P mutation in the OTULIN gene (NIHTVBi014-A) Chen, Daniel Li, Zhongwen Liu, Yangtengyu Sampaio, Natalia Yang, Dan Aksentijevich, Ivona Boehm, Manfred Chen, Guibin Stem Cell Res Article We have successfully generated induced pluripotent stem cells (iPSC) from dermal fibroblasts of a patient with a homozygous p.Leu272Pro mutation in the gene encoding the linear deubiquitinase OTULIN. Biallelic loss of function mutations in this gene are responsible for the OTULIN deficiency termed Otulipenia or OTULIN-related autoinflammatory syndrome (ORAS). The iPSC carrying homozygous L272P OTULIN gene mutations are phenotypically normal and they have capacity to differentiate toward the three germ layers. These iPSC have great potential to study the role of linear ubiquitination in the regulation of immune responses and other cellular pathways. 2020-07-20 /pmc/articles/PMC7855794/ /pubmed/32721894 http://dx.doi.org/10.1016/j.scr.2020.101921 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license.
spellingShingle Article
Chen, Daniel
Li, Zhongwen
Liu, Yangtengyu
Sampaio, Natalia
Yang, Dan
Aksentijevich, Ivona
Boehm, Manfred
Chen, Guibin
Human induced pluripotent stem cells generated from a patient with a homozygous L272P mutation in the OTULIN gene (NIHTVBi014-A)
title Human induced pluripotent stem cells generated from a patient with a homozygous L272P mutation in the OTULIN gene (NIHTVBi014-A)
title_full Human induced pluripotent stem cells generated from a patient with a homozygous L272P mutation in the OTULIN gene (NIHTVBi014-A)
title_fullStr Human induced pluripotent stem cells generated from a patient with a homozygous L272P mutation in the OTULIN gene (NIHTVBi014-A)
title_full_unstemmed Human induced pluripotent stem cells generated from a patient with a homozygous L272P mutation in the OTULIN gene (NIHTVBi014-A)
title_short Human induced pluripotent stem cells generated from a patient with a homozygous L272P mutation in the OTULIN gene (NIHTVBi014-A)
title_sort human induced pluripotent stem cells generated from a patient with a homozygous l272p mutation in the otulin gene (nihtvbi014-a)
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7855794/
https://www.ncbi.nlm.nih.gov/pubmed/32721894
http://dx.doi.org/10.1016/j.scr.2020.101921
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