从一名患有遗传性出血性毛细血管扩张症2型（HHT2）的患者中建立了人诱导多能干细胞系KMUGMCi001-A，该患者的ACVRL1基因存在杂合的c.772 + 3_772 + 4dup突变。

Establishment of a human induced pluripotent stem cell line, KMUGMCi001-A, from a patient bearing a heterozygous c.772 + 3_772 + 4dup mutation in the ACVRL1 gene leading Telangiectasia, hereditary hemorrhagic, type 2 (HHT2).

作者信息

Ura Hiroki, Togi Sumihito, Iwata Yumiko, Ozaki Mamoru, Niida Yo

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.

出版信息

Stem Cell Res. 2022 May;61:102743. doi: 10.1016/j.scr.2022.102743. Epub 2022 Mar 8.

DOI:10.1016/j.scr.2022.102743

PMID:35279593

Abstract

Telangiectasia, hereditary hemorrhagic, type 2 (HHT2) is a rare autosomal dominant disease caused by a mutated ACVRL1 gene (Letteboer et al., 2005). The peripheral blood mononuclear cells (PBMCs) from a patient carrying a heterozygous 2 bp duplication in intron 6 of the ACVRL1 gene, NG_009549.1(NM_000020.2):c.772 + 3_772 + 4dup, were reprogrammed using episomal vectors. The inserted mutation in ACVRL1 will causes the abnormal splicing, which will be associated with HHT2. The cell line will enable proper in vitro disease modelling of HHT2(Roman and Hinck, 2017).

摘要

遗传性出血性毛细血管扩张症2型（HHT2）是一种由ACVRL1基因突变引起的罕见常染色体显性疾病（Letteboer等人，2005年）。使用附加型载体对一名携带ACVRL1基因（NG_009549.1(NM_000020.2)）第6内含子杂合2bp重复突变（c.772 + 3_772 + 4dup）的患者的外周血单个核细胞（PBMC）进行重编程。ACVRL1中插入的突变将导致异常剪接，这与HHT2相关。该细胞系将能够对HHT2进行适当的体外疾病建模（Roman和Hinck，2017年）。