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Generation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering Williams-Beuren syndrome (7q11.23 deletion).

作者信息

Kuebler B, Aran B, Flores R, Pérez-Jurado L A, Veiga A, Corominas R, Cuscó I

机构信息

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.

出版信息

Stem Cell Res. 2020 Dec;49:102087. doi: 10.1016/j.scr.2020.102087. Epub 2020 Nov 16.

Abstract

Skin fibroblasts were obtained from four patients with Williams-Beuren syndrome (WBS) carrying the typical 1.5 Mb or 1.8 Mb deletion 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 ESi059A, ESi060B and ESi068A had the 1.5 Mb deletion of 7q11.23 and ESi069A the 1.8 Mb, with no novel additional genomic alterations, 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. WBS patient's lines are a valuable resource for in vitro modelling of WBS.

摘要

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