• Mutation; HGNC; 9508; PSEN1; Simple; p.Cys410Tyr (c.1229G>A); ClinVar=VCV000018127; Zygosity=Unspecified (PubMed=10408806).
  

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977)

CLPUB00387
Coriell L.L., Greene A.E., Mulivor R.A.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 7th edition. October 1980.
(In) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda (1980)

PubMed=7253718; DOI=10.1016/0047-6374(81)90027-0
Das N.K., Murphy D.G.
The National Institute on Aging repository cell cultures.
Mech. Ageing Dev. 16:1-17(1981)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

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=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)