Establishment of a human iPSC line, IISHDOi004-A, from a patient with Usher syndrome associated with the mutation c.2276G>T; p.Cys759Phe in the USH2A gene

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dc.contributor.author Zurita-Díaz, Francisco
dc.contributor.author Ortuño-Costela, María del Carmen
dc.contributor.author Moreno-Izquierdo, Ana
dc.contributor.author Galbis, Liliana
dc.contributor.author Millán, José María
dc.contributor.author Ayuso, Carmen
dc.contributor.author Garesse, Rafael
dc.contributor.author Gallardo, M. Esther
dc.contributor.other UAM. Departamento de Bioquímica es_ES
dc.contributor.other Instituto de Investigaciones Biomédicas "Alberto Sols" (IIBM) es_ES
dc.contributor.other Instituto de Investigación Sanitaria Fundación Jiménez Díaz (ISS-FJD) es_ES
dc.date.accessioned 2019-05-21T11:32:25Z
dc.date.available 2019-05-21T11:32:25Z
dc.date.issued 2018-08-02
dc.identifier.citation Stem Cell Research 31 (2018): 152–156 en_US
dc.identifier.issn 1873-5061 (print) es_ES
dc.identifier.issn 1876-7753 (online) es_ES
dc.identifier.uri http://hdl.handle.net/10486/687573
dc.description.abstract A human iPSC line, IISHDOi004-A, from fibroblasts obtained from a patient with Usher syndrome, harboring a homozygous mutation in the USH2A gene (c.2276G>T; p.Cys759Phe) has been generated. Reprogramming factors Oct3/4, Sox2, Klf4, and c-Myc were delivered using Sendai virus. en_US
dc.description.sponsorship This work was supported by grants from: 1) the “Fondo de Investigación Sanitaria, Instituto de Salud Carlos III cofunded by FEDER Funds”: PI10/0703, PI13/00556 and PI16/00789 to RG, PI15/00484 to MEG and PI16/ 0425 to CA. 2) “Centro de Investigación Biomédica en Red en Enfermedades Raras” (CIBERER): grants 13-717/132.05 and ER16P3AC717 to RG. 3) “Comunidad Autónoma de Madrid” (grant number S2010/BMD-2402 to RG) and 4) FUNDALUCE 2015 to CA. MdC.O-C and F.Z-D receive grant support from the Ministerio de Educación, Cultura y Deporte (FPU13/00544 and FPU16/03895). MEG is supported by a “Miguel Servet” contract (CP16/00046) from Instituto de Salud Carlos III and FEDER Funds. LG is supported by a “Rio Hortega” contract (16/00126) from Instituto de Salud Carlos III and FEDER Funds en_US
dc.format.extent 5 pag. es_ES
dc.format.mimetype application/pdf en
dc.language.iso eng en
dc.publisher Elsevier B.V. es_ES
dc.relation.ispartof Stem Cell Research en_US
dc.rights © 2018 The Authors es_ES
dc.subject.other Human iPSC line en_US
dc.subject.other Fibroblasts en_US
dc.subject.other Usher syndrome en_US
dc.subject.other Mutation in the USH2A en_US
dc.title Establishment of a human iPSC line, IISHDOi004-A, from a patient with Usher syndrome associated with the mutation c.2276G>T; p.Cys759Phe in the USH2A gene en_US
dc.type article en
dc.subject.eciencia Biología y Biomedicina / Biología es_ES
dc.relation.publisherversion https://doi.org/10.1016/j.scr.2018.08.002 es_ES
dc.identifier.doi 10.1016/j.scr.2018.08.002 es_ES
dc.identifier.publicationfirstpage 152 es_ES
dc.identifier.publicationissue 31 es_ES
dc.identifier.publicationlastpage 156 es_ES
dc.relation.projectID Gobierno de España. PI10/0703 es_ES
dc.relation.projectID Gobierno de España. PI13/00556 es_ES
dc.relation.projectID Gobierno de España. PI16/09789 es_ES
dc.relation.projectID Gobierno de España. PI15/00484 es_ES
dc.relation.projectID Gobierno de España. PI16/0425 es_ES
dc.relation.projectID Comunidad de Madrid. S2010/BMD-2402/MITOLAB es_ES
dc.relation.projectID Gobierno de España. FPU13/00544 es_ES
dc.relation.projectID Gobierno de España. FPU16/03895 es_ES
dc.relation.projectID Gobierno de España. CP16/00046 es_ES
dc.relation.projectID Gobierno de España. 16/00126 es_ES
dc.type.version info:eu-repo/semantics/publishedVersion en
dc.rights.cc Reconocimiento – NoComercial – SinObraDerivada es_ES
dc.rights.accessRights openAccess en


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