• Mutation; HGNC; HGNC:9508; PSEN1; Simple; p.Ala246Glu (c.737C>A); ClinVar=VCV000018125; Zygosity=Heterozygous (PubMed=10408806).
  

PubMed=8247227; DOI=10.1016/0197-4580(93)90103-i
K.R. McCoy, Roland Dyche Mullins, Terry G. Newcomb, Grace M. Ng, Gabriela Pavlinkova, Ronald J. Polinsky, Linda E. Nee, Jesse E. Sisken;
Serum- and bradykinin-induced calcium transients in familial Alzheimer's fibroblasts.
Neurobiol. Aging 14:447-455(1993)

CLPUB00597
National Institute on Aging
1994 catalog of cell lines. NIA Aging Cell Repository.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda; USA (1994)

PubMed=7847674; DOI=10.1111/j.1749-6632.1994.tb44413.x
Rene Etcheberrigaray, Gary E. Gibson, Daniel Leon Alkon;
Molecular mechanisms of memory and the pathophysiology of Alzheimer's disease.
Ann. N. Y. Acad. Sci. 747:245-255(1994)

PubMed=8643543; DOI=10.1073/pnas.93.10.5146; PMCID=PMC39422
Ram Parshad, Katherine Koontz Sanford, Floyd M. Price, Lynn K. Melnick, Linda E. Nee, Mark B. Schapiro, Robert E. Tarone, Jay H. Robbins;
Fluorescent light-induced chromatid breaks distinguish Alzheimer disease cells from normal cells in tissue culture.
Proc. Natl. Acad. Sci. U.S.A. 93:5146-5150(1996)

PubMed=8832629; DOI=10.1016/0197-4580(96)00074-7
Naohide Hirashima, Rene Etcheberrigaray, Stefania Bergamaschi, Marco Racchi, Fiorenzo Maria Battaini, Giuliano Binetti, Stefano Govoni, Daniel Leon Alkon;
Calcium responses in human fibroblasts: a diagnostic molecular profile for Alzheimer's disease.
Neurobiol. Aging 17:549-555(1996)

Patent=US5773219
Katherine Koontz Sanford, Ram Parshad, Jay H. Robbins;
Process for detecting Alzheimer disease using cultured cells.
Patent number US5773219, 30-Jun-1998

PubMed=10408806; DOI=10.1006/nbdi.1999.0236
Lisa N. Geller, Huntington Potter;
Chromosome missegregation and trisomy 21 mosaicism in Alzheimer's disease.
Neurobiol. Dis. 6:167-179(1999)