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 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. Published by Elsevier B.V.

Authors Chen D, Li Z, Liu Y, Sampaio N, Yang D, Aksentijevich I, Boehm M, Chen G
Journal Stem cell research
Publication Date 2020 Jul 20;47:101921
PubMed 32721894
DOI 10.1016/j.scr.2020.101921

Research Projects

Cell Lines