• 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
McCoy K.R., Mullins R.D., Newcomb T.G., Ng G.M., Pavlinkova G., Polinsky R.J., Nee L.E., Sisken J.E.
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
Etcheberrigaray R., Gibson G.E., Alkon D.L.
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
Parshad R., Sanford K.K., Price F.M., Melnick L.K., Nee L.E., Schapiro M.B., Tarone R.E., Robbins J.H.
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
Hirashima N., Etcheberrigaray R., Bergamaschi S., Racchi M., Battaini F.M., Binetti G., Govoni S., Alkon D.L.
Calcium responses in human fibroblasts: a diagnostic molecular profile for Alzheimer's disease.
Neurobiol. Aging 17:549-555(1996)

Patent=US5773219
Sanford K.K., Parshad R., Robbins J.H.
Process for detecting Alzheimer disease using cultured cells.
Patent number US5773219, 30-Jun-1998

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