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-

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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dc.contributor.author Kuebler, Bernd
dc.contributor.author Aran, Begoña
dc.contributor.author Flores Peirats, Raquel
dc.contributor.author Pérez Jurado, Luis Alberto
dc.contributor.author Veiga, Anna
dc.contributor.author Corominas, Roser
dc.contributor.author Cuscó Martí, Ivon, 1973-
dc.date.accessioned 2021-01-15T07:25:20Z
dc.date.available 2021-01-15T07:25:20Z
dc.date.issued 2020
dc.description.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.
dc.description.sponsorship This work was supported by the grant from Fundación Ramón Areces, the marathon “Todos Somos Raros, Todos Somos Únicos” P52, Spanish RETOS “RTI2018-101960-A-I00”, CERCA Programme / Generalitat de Catalunya; Red de Terapia Celular, TerCel, founded by Retics, RD12/0019/0034; Plataforma de Recursos Biomoleculares y Bioinformaticos, PRB2, PT13/0001/0041; both founded by Instituto de Salud Carlos III-ISCIII/FEDER. RC was recipient of Juan de la Cierva JCI-2012-14404 and Marie Skłodowska-Curie Actions (656359, H2020) and Ramón y Cajal (RYC-2017-21636) fellowships.
dc.format.mimetype application/pdf
dc.identifier.citation 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
dc.identifier.doi http://dx.doi.org/10.1016/j.scr.2020.102087
dc.identifier.issn 1873-5061
dc.identifier.uri http://hdl.handle.net/10230/46177
dc.language.iso eng
dc.publisher Elsevier
dc.relation.ispartof Stem Cell Res. 2020; 49:102087
dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/656359
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.rights.uri http://creativecommons.org/licenses/by-nc-nd/4.0/
dc.title Generation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering Williams-Beuren syndrome (7q11.23 deletion)
dc.type info:eu-repo/semantics/article
dc.type.version info:eu-repo/semantics/publishedVersion

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