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

PubMed=3941662; DOI=10.1016/0027-5107(86)90121-1
Scudiero D.A., Polinsky R.J., Brumback R.A., Tarone R.E., Nee L.E., Robbins J.H.
Alzheimer disease fibroblasts are hypersensitive to the lethal effects of a DNA-damaging chemical.
Mutat. Res. 159:125-131(1986)

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) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda (1994)

PubMed=8643543; DOI=10.1073/pnas.93.10.5146
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)

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)