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dc.contributor.authorMontes, Rosa
dc.contributor.authorMollinedo, Pilar
dc.contributor.authorGonzález Lamuño, Domingo
dc.contributor.authorRamos Mejía, Verónica
dc.contributor.authorFernández Luna, Jose L.
dc.contributor.authorReal Luna, Pedro José
dc.identifier.citationMontes, R., Mollinedo, P., Perales, S., Gonzalez-Lamuño, D., Ramos-Mejía, V., Fernandez-Luna, J. L., & Real, P. J. (2019). GENYOi004-A: An induced pluripotent stem cells (iPSCs) line generated from a patient with autism-related ADNP syndrome carrying a pTyr719* mutation. Stem cell research, 37, 101446.es_ES
dc.description.abstractADNP syndrome is an intellectual disability associated with Autism spectrum disorder caused by mutations in ADNP. We generated an iPSC line from an ADNP syndrome pediatric patient harboring the mutation p.Trp719* (GENYOi004-A). Peripheral blood mononuclear cells were reprogrammed using a non-transmissible form of Sendai viruses expressing the four Yamanaka factors (Oct3/4, SOX2, KLF4 and c-MYC). Characterization of GENYOi004-A included mutation analysis of ADNP by allele-specific PCR, genetic identity by Short Tandem Repeats polymorphism profiling, alkaline phosphatase enzymatic activity, expression of pluripotencyassociated factors and pluripotency studies in vivo. GENYOi004-A will be useful to evaluate ADNP syndrome alterations at early developmental stages.
dc.description.sponsorshipThis work was supported by the Postdoctoral Subprogramme Juan de la Cierva (JCI_2012_12666) to RM and Ramon y Cajal (RYC-2015- 18382) to PJR founded by the Ministry of Economy and Competitiveness; the Instituto de Salud Carlos III-FEDER (CP12/03175 and CPII17/00032) to V.R-M. and (PI12/1598, CPII15/00018 and PI16/01340) to PJR; the Instituto de Investigación Valdecilla (IDIVAL) 2014.041 to JLF-L and DG-L and APG/03 to JLF-L.es_ES
dc.publisherElsevier BVes_ES
dc.rightsAtribución-NoComercial-SinDerivadas 3.0 España*
dc.titleGENYOi004-A: An induced pluripotent stem cells (iPSCs) line generated from a patient with autism-related ADNP syndrome carrying a pTyr719* mutationes_ES

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