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

Kuebler, Bernd; Aran, Begoña; Flores Peirats, Raquel; Pérez Jurado, Luis Alberto; Veiga, Anna; Corominas, Roser; Cuscó Martí, Ivon, 1973-

doi:http://dx.doi.org/10.1016/j.scr.2020.102087

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

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Kuebler B, Aran B, Flores R, Pérez-Jurado LA, Veiga A, Corominas R, Cuscó I. Generation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering Williams-Beuren syndrome (7q11.23 deletion). Stem Cell Res. 2020; 49:102087. DOI: 10.1016/j.scr.2020.102087

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.