ID   AG08109
AC   CVCL_4K19
SY   AG08109B
DR   CLO; CLO_0033615
DR   Coriell; AG08109
DR   Wikidata; Q54741574
RX   CelloPub=CLPUB00597;
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; HGNC:9508; PSEN1; Simple; p.Met146Leu (c.436A>C); ClinVar=VCV000018123; Zygosity=Unspecified (from autologous cell line AG08110).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C123412; Alzheimer's disease 3
DI   ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_4K20 ! AG08110
SX   Female
AG   43Y
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 15
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RX   CelloPub=CLPUB00597;
RG   National Institute on Aging;
RT   "1994 catalog of cell lines. NIA Aging Cell Repository.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda; USA (1994).
//