Ontology highlight
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.
SUBMITTER: Karch CM
PROVIDER: S-EPMC6060509 | biostudies-literature | 2018 Jul
REPOSITORIES: biostudies-literature
Karch Celeste M CM Hernández Damián D Wang Jen-Chyong JC Marsh Jacob J Hewitt Alex W AW Hsu Simon S Norton Joanne J Levitch Denise D Donahue Tamara T Sigurdson Wendy W Ghetti Bernardino B Farlow Martin M Chhatwal Jasmeer J Berman Sarah S Cruchaga Carlos C Morris John C JC Bateman Randall J RJ Pébay Alice A Goate Alison M AM
Alzheimer's research & therapy 20180725 1
<h4>Background</h4>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 deter ...[more]