建立一株人诱导多能干细胞系，KMUGMCi005-A，源自一位患有寻常型疣状表皮发育不良（EV）的患者，该患者的 TMC8 基因存在纯合性剪接供体位点突变。
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.
机构信息
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.
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.
出版信息
Stem Cell Res. 2022 Oct;64:102926. doi: 10.1016/j.scr.2022.102926. Epub 2022 Sep 20.
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.
疣状表皮发育不良（EV）是一种常染色体隐性皮肤病，其特征是对人类β乳头瘤病毒异常易感，并且在暴露于阳光的皮肤上鳞状细胞癌的进展率很高。大多数 EV 病例是由 TMC8 基因的纯合突变引起的。使用 CytoTune-iPS2.0 Sendai 重编程试剂盒对携带 TMC8 基因突变的患者的外周血单核细胞进行重编程。TMC8 中的纯合突变会导致异常剪接变异体，这与 EV 有关。已建立的人类诱导多能干细胞系将能够对 EV 进行适当的体外疾病建模。
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