ID   AG09907
AC   CVCL_T871
DR   CLO; CLO_0021930
DR   Coriell; AG09907
DR   Wikidata; Q54743096
RX   CelloPub=CLPUB00597;
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; HGNC:9509; PSEN2; Simple; p.Asn141Ile (c.422A>T); ClinVar=VCV000008845; Zygosity=Heterozygous (Coriell=AG09907).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C123413; Alzheimer's disease 4
DI   ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   71Y
CA   Transformed cell line
DT   Created: 03-02-14; Last updated: 19-12-24; Version: 19
//
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).
//