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

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.

journal_name

Stem Cell Res

journal_title

Stem cell research

authors

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

doi

10.1016/j.scr.2020.102087

subject

Has Abstract

pub_date

2020-12-01 00:00:00

pages

102087

eissn

1873-5061

issn

1876-7753

pii

S1873-5061(20)30388-3

journal_volume

49

pub_type

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