Journal article
Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network
CM Karch, D Hernández, JC Wang, J Marsh, AW Hewitt, S Hsu, J Norton, D Levitch, T Donahue, W Sigurdson, B Ghetti, M Farlow, J Chhatwal, S Berman, C Cruchaga, JC Morris, RJ Bateman, A Pébay, AM Goate
Alzheimer S Research and Therapy | BMC | Published : 2018
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 ..
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Grants
Awarded by Australian Research Council
Funding Acknowledgements
This work was supported by the Dominantly Inherited Alzheimer Network (DIAN; grant UF1 AG032438 [to RJB and JCM]), NIH grant AG046374 (to CMK), DIAN-TU Pharma Consortium (https://dian.wustl.edu/our-research/the-pharma-consortium/ [to RJB, CMK, and AMG]), Yulgilbar Alzheimer's Research Program (to AP), DHB Foundation (to AP), National Health and Medical Research Council Practitioner Fellowship (to AWH), Australian Research Council Future Fellowship (FT140100047; to AP), and Operational Infrastructure Support from the Victorian Government (to AP).