Derivation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering 7q11.23 microduplication syndrome
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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 Cuscó Martí, Ivon, 1973-
- dc.contributor.author Corominas, Roser
- dc.date.accessioned 2021-01-14T07:13:06Z
- dc.date.available 2021-01-14T07:13:06Z
- dc.date.issued 2020
- dc.description.abstract Skin fibroblasts were obtained from four patients with 7q11.23 microduplication syndrome carrying the reciprocal rearrangement of Williams-Beuren syndrome 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 ESi058B, ESi057B, ESi070A and ESi071A had the 7q11.23 duplication with no additional genomic alterations, a 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. Patient's derived iPSCs are a valuable resource for in vitro modeling of 7q11.23 microduplication syndrome. Resource Table.
- dc.description.sponsorship This work was supported by the grants from Fundación Ramón Areces, the marathon “Todos Somos Raros, Todos Somos Únicos” P52, Spanish Ministerio de Ciencia, Innovación y Universidades “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 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, Cuscó I, Corominas R. Derivation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering 7q11.23 microduplication syndrome. Stem Cell Res. 2020; 49:102092. DOI: 10.1016/j.scr.2020.102092
- dc.identifier.doi http://dx.doi.org/10.1016/j.scr.2020.102092
- dc.identifier.issn 1873-5061
- dc.identifier.uri http://hdl.handle.net/10230/46167
- dc.language.iso eng
- dc.publisher Elsevier
- dc.relation.ispartof Stem Cell Res. 2020; 49:102092
- dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/656359
- dc.rights © 2020 The Author(s). 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.accessRights info:eu-repo/semantics/openAccess
- dc.rights.uri http://creativecommons.org/licenses/by-nc-nd/4.0/
- dc.title Derivation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering 7q11.23 microduplication syndrome
- dc.type info:eu-repo/semantics/article
- dc.type.version info:eu-repo/semantics/publishedVersion