ID   AG07646
AC   CVCL_V149
DR   CLO; CLO_0032958
DR   Coriell; AG07646
DR   Wikidata; Q54740999
RX   CelloPub=CLPUB00597;
CC   Part of: Canadian Alzheimer disease kindred subcollection.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 9508; PSEN1; Simple; p.Ala246Glu (c.737C>A); ClinVar=VCV000018125; Zygosity=Unspecified (from autologous cell line AG07645).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Donor information: At sampling donor was not affected with Alzheimer disease but has a 50% risk.
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_V148 ! AG07645
SX   Female
AG   15Y6M
CA   Transformed cell line
DT   Created: 16-04-14; Last updated: 29-06-23; Version: 16
//
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).
//