A transcriptomic study of Williams-Beuren syndrome associated genes in mouse embryonic stem cells

被引：1
|
作者：
De Cegli, Rossella [1 ]
Iacobacci, Simona [1 ]
Fedele, Anthony [2 ]
Ballabio, Andrea [1 ,3 ,4 ,5 ]
di Bernardo, Diego [1 ,6 ]
机构：
[1] Telethon Inst Genet & Med TIGEM, Via Campi Flegrei 34, I-80078 Naples, Italy
[2] South Australian Hlth & Med Res Inst, Lysosomal Dis Res Unit, Adelaide, SA, Australia
[3] Univ Naples Federico II, Med Genet Unit, Dept Med & Translat Sci, Via Pansini 5, I-80131 Naples, Italy
[4] Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA
[5] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[6] Univ Naples Federico II, Dept Chem Mat & Ind Engn, I-80125 Naples, Italy
来源：
SCIENTIFIC DATA | 2019年 / 6卷 / 1期
关键词：
EXPRESSION; MICE; REGION;
D O I：
10.1038/s41597-019-0281-5
中图分类号：
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
Williams-Beuren syndrome (WBS) is a relatively rare disease caused by the deletion of 1.5 to 1.8 Mb on chromosome 7 which contains approximately 28 genes. This multisystem disorder is mainly characterized by supravalvular aortic stenosis, mental retardation, and distinctive facial features. We generated mouse embryonic stem (ES) cells clones expressing each of the 4 human WBS genes (WBSCR1, GTF2I, GTF2IRD1 and GTF2IRD2) found in the specific delated region 7q11.23 causative of the WBS. We generated at least three stable clones for each gene with stable integration in the ROSA26 locus of a tetracycline-inducible upstream of the coding sequence of the genet tagged with a 3xFLAG epitope. Three clones for each gene were transcriptionally profiled in inducing versus non-inducing conditions for a total of 24 profiles. This small collection of human WBS-ES cell clones represents a resource to facilitate the study of the function of these genes during differentiation.
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页数：5
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