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

Hiroki Ura; Sumihito Togi; Hisayo Hatanaka; Yo Niida

doi:10.1016/j.scr.2022.102926

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

Stem Cell Res. 2022 Oct:64:102926. doi: 10.1016/j.scr.2022.102926. Epub 2022 Sep 20.

Authors

Hiroki Ura¹, Sumihito Togi², Hisayo Hatanaka³, Yo Niida²

Affiliations

¹ Center for Clinical Genomics, Kanazawa Medical University Hospital, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0923, Japan; Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0923, Japan. Electronic address: h-ura@kanazawa-med.ac.jp.
² Center for Clinical Genomics, Kanazawa Medical University Hospital, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0923, Japan; Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0923, Japan.
³ Center for Clinical Genomics, Kanazawa Medical University Hospital, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0923, Japan.

PMID: 36170758
DOI: 10.1016/j.scr.2022.102926

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Epidermodysplasia Verruciformis* / genetics
Epidermodysplasia Verruciformis* / pathology
Homozygote
Humans
Induced Pluripotent Stem Cells* / pathology
Leukocytes, Mononuclear / pathology
Membrane Proteins / genetics
Mutation / genetics

Substances

TMC8 protein, human
Membrane Proteins