• Mutation; HGNC; 613; APOE; Simple; p.Cys130Arg (c.388T>C); ClinVar=VCV000017864; Zygosity=Homozygous; Note=ApoE4 allele (PubMed=30699343).
  

CLPUB00597
National Institute on Aging
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(In) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda (1994)

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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=30699343; DOI=10.1016/j.celrep.2019.01.023
Meyer K., Feldman H.M., Lu T., Drake D., Lim E.T., Ling K.-H., Bishop N.A., Pan Y., Seo J., Lin Y.-T., Su S.C., Church G.M., Tsai L.-H., Yankner B.A.
REST and neural gene network dysregulation in iPSC models of Alzheimer's disease.
Cell Rep. 26:1112-1127.e9(2019)