Establishment of a human induced pluripotent stem cell line, KMUGMCi005-A, from a patient with Epidermodysplasia verruciformis (EV) bearing homozygous splicing donor site mutation in the TMC8 gene
Summary
Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human beta papillomaviruses and a high rate of progression to squamous cell carcinoma on sun-exposed skin. The majority of EV cases are caused by homozygous mutation in TMC8. The peripheral blood mononuclear cells from a patient carrying homozygous mutation of the TMC8 gene were reprogrammed using the CytoTune-iPS2.0 Sendai Reprogramming Kit. The homozygous mutation in TMC8 will cause the abnormal splicing variant, which is known to associated with EV. The established human induced pluripotent cell line will enable proper in vitro disease modelling of EV. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Ura H, Togi S, Hatanaka H, Niida Y |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2022 Oct;64:102926 |
| PubMed | 36170758 |
| DOI | 10.1016/j.scr.2022.102926 |