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, B.
dc.contributor.authorAran, B.
dc.contributor.authorFlores, R.
dc.contributor.authorPérez-Jurado, Luis Alberto
dc.contributor.authorVeiga, A.
dc.contributor.authorCorominas Castiñeira, Roser
dc.contributor.authorCuscó, Ivon
dc.date.accessioned2021-03-25T17:28:59Z
dc.date.available2021-03-25T17:28:59Z
dc.date.issued2020-11-16
dc.date.updated2021-03-25T17:28:59Z
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.format.extent5 p.
dc.format.mimetypeapplication/pdf
dc.identifier.idgrec709218
dc.identifier.issn1873-5061
dc.identifier.urihttps://hdl.handle.net/2445/175782
dc.language.isoeng
dc.publisherElsevier B.V.
dc.relation.isformatofReproducció del document publicat a: https://doi.org/10.1016/j.scr.2020.102087
dc.relation.ispartofStem Cell Research, 2020, vol. 49, p. 102087
dc.relation.projectIDinfo:eu-repo/grantAgreement/EC/H2020/656359/EU//7DUP
dc.relation.urihttps://doi.org/10.1016/j.scr.2020.102087
dc.rightscc-by (c) Kuebler, B. et al., 2020
dc.rights.accessRightsinfo:eu-repo/semantics/openAccess
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/es
dc.sourceArticles publicats en revistes (Genètica, Microbiologia i Estadística)
dc.subject.classificationSíndrome de Williams
dc.subject.otherWilliams syndrome
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.typeinfo:eu-repo/semantics/publishedVersion

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