Generation of one iPSC line (IMEDEAi006-A) from an Early-onset Familial Alzheimer's Disease (fAD) Patient Carrying the E280A Mutation in the PSEN1 Gene

dc.creatorVallejo Diez, Sara
dc.creatorAguillón Niño, David Fernando
dc.creatorFleischer, Aarne
dc.creatorMartín Fernández, Jose María
dc.creatorSánchez Gilabert, Almudena
dc.creatorCastresana Jáuregui, Mónica
dc.creatorVillegas Lanau, Carlos Andrés
dc.creatorMastronardi, Claudio A.
dc.creatorEspinosa Aroca, Lady Giovanna
dc.creatorArcos Burgos, Oscar Mauricio
dc.creatorDel Pozo, Ángel
dc.creatorHerrán, Enara
dc.creatorGainza, Eusebio
dc.creatorIsaza Ruget, Mario
dc.creatorLopera, Francisco
dc.creatorBachiller, Daniel
dc.date2023-03-23T23:06:21Z
dc.date2023-03-23T23:06:21Z
dc.date2019
dc.date.accessioned2024-04-23T18:02:03Z
dc.date.available2024-04-23T18:02:03Z
dc.identifier1876-7753
dc.identifierhttps://hdl.handle.net/10495/34211
dc.identifier1873-5061
dc.identifierhttp://doi.org/10.1016/j.scr.2019.101440
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/9230283
dc.descriptionABSTRACT: The mutation E280A in PSEN1 (presenilin-1) is the most common cause of early-onset familial Alzheimer's Disease (fAD). It presents autosomal dominant inheritance and frequently leads to the manifestation of the disease in relatively young individuals. Here we report the generation of one PSEN1 E280A iPSC line derived from an early-onset patient. OriP/EBNA1-based episomal plasmids containing OCT3/4, SOX2, KLF4, L-MYC, LIN28, BCL-xL and shp53 were used to reprogram oral mucosa fibroblasts. The iPSC line generated has normal karyotype, carry the E280A mutation, is free of plasmid integration, express high levels of pluripotency markers and can differentiate into all three germ layers.
dc.descriptionCOL0010744
dc.descriptionCOL0029147
dc.format5
dc.formatapplication/pdf
dc.formatapplication/pdf
dc.languageeng
dc.publisherElsevier
dc.publisherGrupo de Neurociencias de Antioquia
dc.publisherPaises Bajos
dc.relationStem Cell Res
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rightshttp://creativecommons.org/licenses/by-nc-nd/2.5/co/
dc.rightshttp://purl.org/coar/access_right/c_abf2
dc.rightshttps://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectInduced Pluripotent Stem Cells
dc.subjectCélulas Madre Pluripotentes Inducidas
dc.subjectAlzheimer Disease
dc.subjectEnfermedad de Alzheimer
dc.subjectMutation
dc.subjectMutación
dc.titleGeneration of one iPSC line (IMEDEAi006-A) from an Early-onset Familial Alzheimer's Disease (fAD) Patient Carrying the E280A Mutation in the PSEN1 Gene
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.typehttp://purl.org/coar/resource_type/c_18ws
dc.typehttps://purl.org/redcol/resource_type/ART
dc.typeArtículo de investigación


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