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Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene

dc.contributor.authorLópez-Márquez, Arístides
dc.contributor.authorAlonso-Barroso, Esmeralda
dc.contributor.authorCerro-Tello, Gema
dc.contributor.authorBravo-Alonso, Irene
dc.contributor.authorArribas-Carreira, Laura
dc.contributor.authorBriso-Montiano, Álvaro
dc.contributor.authorNavarrete, Rosa
dc.contributor.authorPérez-Cerdá, Celia
dc.contributor.authorUgarte, Magdalena
dc.contributor.authorPérez, Belén
dc.contributor.authorRuiz Desviat, Lourdes 
dc.contributor.authorRichard Rodríguez, Eva María 
dc.contributor.otherUAM. Departamento de Biología Moleculares_ES
dc.date.accessioned2020-04-14T09:47:01Z
dc.date.available2020-04-14T09:47:01Z
dc.date.issued2019-07-01
dc.identifier.citationSteam Cell Research 2019.38 (2019): 101469en_US
dc.identifier.issn1876-7753 (online)en_US
dc.identifier.issn1873-5061 (print)en_US
dc.identifier.urihttp://hdl.handle.net/10486/690741en
dc.description.abstractA human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with propionic acidemia that has a homozygous mutation (c.1218_1231del14ins12 (p.G407 fs)) in the PCCB gene. Reprogramming factors OCT3/4, SOX2, KLF4 and c-MYC were delivered using a non-integrative method based on the Sendai virus. Once established, iPSCs have shown full pluripotency, differentiation capacity and genetic stability. The generated iPSC line represents a useful tool to study the pathomechanisms underlying the deficiencyen_US
dc.description.sponsorshipResearch reported in this work was funded by Grant PAF107 from the Propionic Acidemia Foundation and by grant SAF2016-76004-R from Spanish Ministry of Economy and Competitiveness and European Regional Development Fund. The authors thank INDEPF (Instituto de investigación y desarrollo social de enfermedades poco frecuentes), the Cytogenetic unit from Centro Nacional de Investigaciones Oncológicas(CNIO) and Mar Álvarez for their excellent technical assistance. Centro de Biología Molecular Severo Ochoa receives an institutional grant from Fundación Ramón Areces. ALM is a postdoctoral researcher of Comunidad Autónoma de Madrid (PEJD-2017-POST/BMD-3671). EABis a PhD student funded by the FPU program of the Spanish Ministry ofScience, Innovation and Universities (FPU15/02923)en_US
dc.format.extent4 pag.en_US
dc.format.mimetypeapplication/pdfen
dc.language.isoengen
dc.publisherElsevier BV
dc.relation.ispartofStem Cell Researchen_US
dc.rights© 2019 The Authorsen_US
dc.subject.otherPropionic acidemiaen_US
dc.subject.otherOmozygous mutationen_US
dc.subject.otherPCCBgeneen_US
dc.subject.otherInduced pluripotent stem cell (iPSC)en_US
dc.titleGeneration and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB geneen_US
dc.typearticleen
dc.subject.ecienciaBiología y Biomedicina / Biologíaes_ES
dc.relation.publisherversionhttps://doi.org/10.1016/j.scr.2019.101469
dc.identifier.doi10.1016/j.scr.2019.101469en_US
dc.identifier.publicationfirstpage101469-1
dc.identifier.publicationissue38
dc.identifier.publicationlastpage101469-4
dc.identifier.publicationvolume2019
dc.relation.projectIDGobierno de España. SAF2016-76004-Res_ES
dc.relation.projectIDComunidad de Madrid. PEJD-2017-POST/BMD-3671es_ES
dc.relation.projectIDGobierno de España. FPU15/02923es_ES
dc.type.versioninfo:eu-repo/semantics/publishedVersionen
dc.rights.ccReconocimiento – NoComercial – SinObraDerivadaes_ES
dc.rights.accessRightsopenAccessen
dc.authorUAMLópez Márquez, Aristides (264909)
dc.authorUAMAlonso Barroso, Esmeralda (278926)
dc.authorUAMRuiz Desviat, Lourdes (260916)
dc.authorUAMRichard Rodríguez, Eva María (260198)
dc.authorUAMPérez González, María Belén (258652)
dc.facultadUAMFacultad de Ciencias
dc.institutoUAMCentro de Biología Molecular Severo Ochoa (CBMSO)


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