A transcriptomic study of Williams-Beuren syndrome associated genes in mouse embryonic stem cells-Reference-Cited by-同舟云学术

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

Published:2019-11-06 Issue:1 Volume:6 Page:
ISSN:2052-4463
Container-title:Scientific Data
language:en
Short-container-title:Sci Data

Author:

De Cegli Rossella^ORCID,Iacobacci Simona,Fedele Anthony,Ballabio Andrea^ORCID,di Bernardo Diego^ORCID

Abstract

Abstract 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.

Funder

Fondazione Telethon

Publisher

Springer Science and Business Media LLC

Subject

Library and Information Sciences,Statistics, Probability and Uncertainty,Computer Science Applications,Education,Information Systems,Statistics and Probability

Link

http://www.nature.com/articles/s41597-019-0281-5.pdf

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