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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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Detalles Bibliográficos
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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