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Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network

Citation

Karch, CM and Hernandez, D and Wang, J-C and Marsh, J and Hewitt, AW and Hsu, S and Norton, J and Levitch, D and Donahue, T and Sigurdson, W and Ghetti, B and Farlow, M and Chhatwal, J and Berman, S and Cruchaga, C and Morris, JC and Bateman, RJ and Pebay, A and Goate, AM and the Dominantly Inherited Alzheimer Network (DIAN), Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network, Alzheimer's Research and Therapy, 10, (1) Article 69. ISSN 1758-9193 (2018) [Refereed Article]


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© 2018 The Authors. Licensed under Creative Commons Attribution 4.0 International (CC BY 4.0) https://creativecommons.org/licenses/by/4.0/

DOI: doi:10.1186/s13195-018-0400-0

Abstract

Background: Mutations in amyloid precursor protein (APP), presenilin 1 (PSEN1) and presenilin 2 (PSEN2) cause autosomal dominant forms of Alzheimer disease (ADAD). More than 280 pathogenic mutations have been reported in APP, PSEN1, and PSEN2. However, understanding of the basic biological mechanisms that drive the disease are limited. The Dominantly Inherited Alzheimer Network (DIAN) is an international observational study of APP, PSEN1, and PSEN2 mutation carriers with the goal of determining the sequence of changes in presymptomatic mutation carriers who are destined to develop Alzheimer disease.

Results: We generated a library of 98 dermal fibroblast lines from 42 ADAD families enrolled in DIAN. We have reprogrammed a subset of the DIAN fibroblast lines into patient-specific induced pluripotent stem cell (iPSC) lines. These cells were thoroughly characterized for pluripotency markers.

Conclusions: This library represents a comprehensive resource that can be used for disease modeling and the development of novel therapeutics.

Item Details

Item Type:Refereed Article
Keywords:amyloid precursor protein, Dominantly Inherited Alzheimer Network, fibroblasts, induced pluripotent stem cells, presenilin 1, presenilin 2
Research Division:Biomedical and Clinical Sciences
Research Group:Neurosciences
Research Field:Neurology and neuromuscular diseases
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
ID Code:127798
Year Published:2018
Web of Science® Times Cited:6
Deposited By:Menzies Institute for Medical Research
Deposited On:2018-08-16
Last Modified:2019-02-25
Downloads:52 View Download Statistics

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