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.authorKuebler, Bernd
dc.contributor.authorAran, Begoña
dc.contributor.authorFlores Peirats, Raquel
dc.contributor.authorPérez Jurado, Luis Alberto
dc.contributor.authorVeiga, Anna
dc.contributor.authorCorominas, Roser
dc.contributor.authorCuscó Martí, Ivon, 1973-
dc.date.accessioned2021-01-15T07:25:20Z
dc.date.available2021-01-15T07:25:20Z
dc.date.issued2020
dc.description.abstractSkin 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.sponsorshipThis 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.mimetypeapplication/pdf
dc.identifier.citationKuebler 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.doihttp://dx.doi.org/10.1016/j.scr.2020.102087
dc.identifier.issn1873-5061
dc.identifier.urihttp://hdl.handle.net/10230/46177
dc.language.isoeng
dc.publisherElsevier
dc.relation.ispartofStem Cell Res. 2020; 49:102087
dc.relation.projectIDinfo:eu-repo/grantAgreement/EC/H2020/656359
dc.rights© 2020 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
dc.rights.accessRightsinfo:eu-repo/semantics/openAccess
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.titleGeneration of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering Williams-Beuren syndrome (7q11.23 deletion)
dc.typeinfo:eu-repo/semantics/article
dc.type.versioninfo:eu-repo/semantics/publishedVersion

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