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

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

Research output: Contribution to journalArticle

5 Scopus citations


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.

Original languageEnglish (US)
Article number69
JournalAlzheimer's Research and Therapy
Issue number1
StatePublished - Jul 25 2018


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

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology
  • Cognitive Neuroscience

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  • Cite this

    Karch, C. M., Hernández, D., Wang, J. C., Marsh, J., Hewitt, A. W., Hsu, S., Norton, J., Levitch, D., Donahue, T., Sigurdson, W., Ghetti, B., Farlow, M., Chhatwal, J., Berman, S., Cruchaga, C., Morris, J. C., Bateman, R. J., Pébay, A., & Goate, A. M. (2018). Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network. Alzheimer's Research and Therapy, 10(1), [69].