Cell line was derived from a single male done with Alzheimer's disease with onset occurring at the age of 45. The donor cells were collected via skin biopsy of the forearm ante-mortem. The cell morphology is fibroblast-like. Vial contains 500,000 cells. Shipped with dry ice. Mutations in the PSEN1 gene, encoding presenilin-1 (PS1), are the most common common cause of familial Alzheimer's disease (FAD). PS1 functions as the catalytic subunit of y-secretase, an intramembranous protease that cleaves a variety of type 1 transmembrane proteins, notably including the amyloid precursor protein (APP) and Notch.