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Generation of gene edited hiPSC from familial Alzheimer's disease patient carrying N141I missense mutation in presenilin 2.
Marei, Hany E; Althani, Asmaa; Afifi, Nahla; Hasan, Anwarul; Caceci, Thomas; Pozzoli, Giacomo; Cenciarelli, Carlo.
Afiliación
  • Marei HE; Department of Cytology and Histology, Faculty of Veterinary Medicine, Mansoura University, Mansoura 35116, Egypt. Electronic address: hanymarei@mans.edu.eg.
  • Althani A; Biomedical Research Center, Qatar University, Doha 2713, Qatar; Qatar Biobank, Doha, Qatar.
  • Afifi N; Qatar Biobank, Doha, Qatar.
  • Hasan A; Department of Mechanical and Industrial Engineering, Qatar University, Doha, Qatar.
  • Caceci T; Department of Biomedical Sciences, Virginia Maryland College of Veterinary Medicine, Roanoke, VA, United States.
  • Pozzoli G; Pharmacology Unit, Fondazione Policlinico A. Gemelli, IRCCS, Rome, Italy.
  • Cenciarelli C; Institute of Translational Pharmacology-CNR, Roma, Italy.
Stem Cell Res ; 56: 102552, 2021 10.
Article en En | MEDLINE | ID: mdl-34634760
Alzheimer's disease (AD) is the major cause of dementia worldwide. Early-onset familial AD accounts for about 0.5% of all AD and is caused by single major gene mutations and autosomal dominant inheritance. An N141I missense mutation is associated with a significant increase in basal cell death and apoptosis. In this work we generated hiPSC from skin fibroblasts obtained from an AD patient carrying a N141I missense mutation in PSEN2. The generated iPSC colonies grew and were characterized by pluripotency marker staining; the N141I missense mutation was corrected using genome editing technology.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Células Madre Pluripotentes Inducidas / Enfermedad de Alzheimer Límite: Humans Idioma: En Revista: Stem Cell Res Año: 2021 Tipo del documento: Article Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Células Madre Pluripotentes Inducidas / Enfermedad de Alzheimer Límite: Humans Idioma: En Revista: Stem Cell Res Año: 2021 Tipo del documento: Article Pais de publicación: Reino Unido