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 Resjournal_title
Stem cell researchauthors
Kuebler B,Aran B,Flores R,Pérez-Jurado LA,Veiga A,Corominas R,Cuscó Idoi
10.1016/j.scr.2020.102087subject
Has Abstractpub_date
2020-12-01 00:00:00pages
102087eissn
1873-5061issn
1876-7753pii
S1873-5061(20)30388-3journal_volume
49pub_type
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