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https://hdl.handle.net/10495/34211| Título : | 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 |
| Autor : | Vallejo Diez, Sara Aguillón Niño, David Fernando Fleischer, Aarne Martín Fernández, Jose María Sánchez Gilabert, Almudena Castresana Jáuregui, Mónica Villegas Lanau, Carlos Andrés Mastronardi, Claudio A. Espinosa Aroca, Lady Giovanna Arcos Burgos, Oscar Mauricio Del Pozo, Ángel Herrán, Enara Gainza, Eusebio Isaza Ruget, Mario Lopera, Francisco Bachiller, Daniel |
| metadata.dc.subject.*: | Induced Pluripotent Stem Cells Células Madre Pluripotentes Inducidas Alzheimer Disease Enfermedad de Alzheimer Mutation Mutación |
| Fecha de publicación : | 2019 |
| Editorial : | Elsevier |
| Resumen : | ABSTRACT: 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. |
| metadata.dc.identifier.eissn: | 1873-5061 |
| ISSN : | 1876-7753 |
| metadata.dc.identifier.url: | http://doi.org/10.1016/j.scr.2019.101440 |
| Aparece en las colecciones: | Artículos de Revista en Ciencias Médicas |
Ficheros en este ítem:
| Fichero | Descripción | Tamaño | Formato | |
|---|---|---|---|---|
| AguillonDavid_2019_AlzheimerDiseaseFamilial.pdf | Artículo de investigación | 951.55 kB | Adobe PDF | Visualizar/Abrir |
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