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Alzheimers Res Ther. 2018 Jul 25;10(1):69. doi: 10.1186/s13195-018-0400-0.

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

Author information

1
Department of Psychiatry, Washington University School of Medicine, Campus Box 8134, 660 South Euclid Avenue, St. Louis, MO, 63110, USA. karchc@wustl.edu.
2
Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, Australia.
3
Ophthalmology, Department of Surgery, University of Melbourne, Melbourne, VIC, Australia.
4
Department of Neuroscience and Department of Genetics and Genomic Sciences, Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, New York, NY, 10029, USA.
5
Department of Psychiatry, Washington University School of Medicine, Campus Box 8134, 660 South Euclid Avenue, St. Louis, MO, 63110, USA.
6
School of Medicine, Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia.
7
Department of Neurology, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, MO, 63110, USA.
8
Department of Pathology and Laboratory Medicine, Indiana University, 635 Barnhill Drive, MS A 142, Indianapolis, IN, 46202, USA.
9
Department of Neurology, Indiana University, 635 Barnhill Drive, MS A 142, Indianapolis, IN, 46202, USA.
10
Massachusetts General Hospital, Athinoula A. Martinos Center for Biomedical Imaging, 149 13th Street, Charlestown, MA, 02129, USA.
11
Alzheimer Disease Research Center, University of Pittsburgh School of Medicine, 4-West Montefiore University Hospital, 200 Lothrop Street, Pittsburgh, PA, 15213, USA.
12
Department of Neuroscience and Department of Genetics and Genomic Sciences, Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, New York, NY, 10029, USA. alison.goate@mssm.edu.

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.

KEYWORDS:

Amyloid precursor protein; Dominantly Inherited Alzheimer Network; Fibroblasts; Induced pluripotent stem cells; Presenilin 1; Presenilin 2

PMID:
30045758
PMCID:
PMC6060509
DOI:
10.1186/s13195-018-0400-0
[Indexed for MEDLINE]
Free PMC Article

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