从 1 型先天性肌营养不良症患者中生成一个对照和四个 iPS 细胞克隆。

Generation of one control and four iPSCs clones from patients with Emery-Dreifuss muscular dystrophy type 1.

机构信息

Laboratory of Nuclear Proteins, Faculty of Biotechnology, University of Wroclaw, Fryderyka Joliot-Curie 14a, 50-383 Wrocław, Poland.

Institute of Genetic and Biomedical Research (IRGB) National Research Council of Italy (CNR), Via Fantoli 16/15, 20138 Milan, Italy; The National Institute of Molecular Genetics (INGM) 'Romeo ed Enrica Invernizzi', Via Francesco Sforza 35, 20122 Milan, Italy.

出版信息

Stem Cell Res. 2021 Aug;55:102487. doi: 10.1016/j.scr.2021.102487. Epub 2021 Aug 5.

DOI:10.1016/j.scr.2021.102487

PMID:34419748

Abstract

Emery-Dreifuss muscular dystrophy type 1 (EDMD1) is a rare genetic disease caused by mutations in the EMD gene coding for a nuclear envelope protein emerin. We generated and characterized induced pluripotent stem cells (iPSCs) from two EDMD1 patients bearing a mutation c.del153C and from one healthy donor. That mutation leads to generation of premature STOP codon. Established iPSCs are very valuable tool for disease pathogenesis investigation and for the development of new therapeutic methods after differentiation to cardiac or muscle cells. Obtained iPSCs show the proper morphology, pluripotency markers expression, normal karyotype and potential to differentiate into three germ layers.

摘要

Emery-Dreifuss 肌营养不良症 1 型（EDMD1）是一种罕见的遗传性疾病，由 EMD 基因突变引起，该基因编码核膜蛋白 emerin。我们从两位携带突变 c.del153C 的 EDMD1 患者和一位健康供体中生成并表征了诱导多能干细胞（iPSC）。该突变导致提前产生终止密码子。已建立的 iPSC 是研究疾病发病机制和分化为心脏或肌肉细胞后开发新治疗方法的非常有价值的工具。获得的 iPSC 具有适当的形态、多能性标志物表达、正常核型和分化为三个胚层的潜能。