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Alzheimer's Research & Therapy
Published in: Alzheimer's Research & Therapy 1/2018

Open Access 01-12-2018 | Research

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

Authors: Celeste M. Karch, Damián Hernández, Jen-Chyong Wang, Jacob Marsh, Alex W. Hewitt, Simon Hsu, Joanne Norton, Denise Levitch, Tamara Donahue, Wendy Sigurdson, Bernardino Ghetti, Martin Farlow, Jasmeer Chhatwal, Sarah Berman, Carlos Cruchaga, John C. Morris, Randall J. Bateman, Alice Pébay, Alison M. Goate, the Dominantly Inherited Alzheimer Network (DIAN)

Published in: Alzheimer's Research & Therapy | Issue 1/2018

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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.
Appendix
Available only for authorised users
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Metadata
Title
Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network
Authors
Celeste M. Karch
Damián Hernández
Jen-Chyong Wang
Jacob Marsh
Alex W. Hewitt
Simon Hsu
Joanne Norton
Denise Levitch
Tamara Donahue
Wendy Sigurdson
Bernardino Ghetti
Martin Farlow
Jasmeer Chhatwal
Sarah Berman
Carlos Cruchaga
John C. Morris
Randall J. Bateman
Alice Pébay
Alison M. Goate
the Dominantly Inherited Alzheimer Network (DIAN)
Publication date
01-12-2018
Publisher
BioMed Central
Published in
Alzheimer's Research & Therapy / Issue 1/2018
Electronic ISSN: 1758-9193
DOI
https://doi.org/10.1186/s13195-018-0400-0

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White matter microstructure is altered in cognitively normal middle-aged APOE-ε4 homozygotes

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