Kuebler B, Aran B, Flores R, Pérez-Jurado L A, Veiga A, Cuscó I, Corominas R
Regenerative Medicine Programme, Institut d'Investigació Biomèdica de Bellvitge, IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain; Spanish National Stem Cell Bank-Barcelona Node, Plataforma de Proteómica, Genotipado y Lineas Celulares (PRB3), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.
Department of Experimental and Health Sciences, Universitat Pompeu Fabra (UPF), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Spain.
Stem Cell Res. 2020 Dec;49:102092. doi: 10.1016/j.scr.2020.102092. Epub 2020 Nov 19.
Skin fibroblasts were obtained from four patients with 7q11.23 microduplication syndrome carrying the reciprocal rearrangement of Williams-Beuren syndrome at the 7q11.23 genomic region. Induced pluripotent stem cells (iPSCs) were generated by retroviral infection of fibroblasts with polycystronic vectors. The generated iPSC clones ESi058B, ESi057B, ESi070A and ESi071A had the 7q11.23 duplication with no additional genomic alterations, a stable karyotype, expressed pluripotency markers and could differentiate towards the three germ layers in vitro via embryoid body formation and in vivo by teratoma formation. Patient's derived iPSCs are a valuable resource for in vitro modeling of 7q11.23 microduplication syndrome. Resource Table.
皮肤成纤维细胞取自四名患有7q11.23微重复综合征的患者,这些患者在7q11.23基因组区域携带威廉姆斯-博伦综合征的相互重排。通过用多顺反子载体逆转录病毒感染成纤维细胞来生成诱导多能干细胞(iPSC)。所生成的iPSC克隆ESi058B、ESi057B、ESi070A和ESi071A具有7q11.23重复,无其他基因组改变,核型稳定,表达多能性标志物,并且可以通过胚状体形成在体外和通过畸胎瘤形成在体内向三个胚层分化。患者来源的iPSC是用于7q11.23微重复综合征体外建模的宝贵资源。资源表。