从两名受 Unverricht-Lundborg 病影响的意大利裔兄弟姐妹中生成人类诱导多能干细胞系（UNIMGi003-A 和 UNIMGi004-A）。

Generation of human induced pluripotent stem cell lines (UNIMGi003-A and UNIMGi004-A) from two Italian siblings affected by Unverricht-Lundborg disease.

机构信息

Department of Clinical and Experimental Medicine, Magna Græcia University, 88100 Catanzaro, Italy.

Department of Health Sciences, Magna Græcia University, 88100 Catanzaro, Italy; Unit of Medical Genetics, University Hospital Mater Domini, Catanzaro, Italy.

出版信息

Stem Cell Res. 2021 May;53:102329. doi: 10.1016/j.scr.2021.102329. Epub 2021 Apr 9.

DOI:10.1016/j.scr.2021.102329

PMID:33865103

Abstract

Unverricht-Lundborg disease (ULD) is an inherited form of progressive myoclonus epilepsy caused by mutations in the gene encoding Cystatin B (CSTB), an inhibitor of lysosomal proteases. The most common mutation described in ULD patients is an unstable expansion of a dodecamer sequence located in the CSTB gene promoter. This expansion is causative of the downregulation of CSTB gene expression and, consequently, of its inhibitory activity. Here we report the generation of induced pluripotent stem cell (iPSC) lines from two Italian siblings having a family history of ULD and affected by different clinical and pathological phenotypes of the disease.

摘要

Unverricht-Lundborg 病（ULD）是一种遗传性进行性肌阵挛性癫痫，由编码半胱氨酸蛋白酶抑制剂 B（CSTB）的基因突变引起。在 ULD 患者中描述的最常见突变是位于 CSTB 基因启动子中的十二聚体序列的不稳定扩展。这种扩展是 CSTB 基因表达下调的原因，进而导致其抑制活性降低。在这里，我们报告了来自两个意大利同胞的诱导多能干细胞（iPSC）系的产生，他们有 ULD 的家族史，并患有该病的不同临床和病理表型。