ID   AG08526
AC   CVCL_4K75
DR   CLO; CLO_0034349
DR   Coriell; AG08526
DR   Wikidata; Q54742163
RX   CelloPub=CLPUB00597;
CC   Part of: German Alzheimer disease kindred subcollection.
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; 9508; PSEN1; Simple; p.Leu286Val (c.856C>G); ClinVar=VCV000018126; Zygosity=Unspecified (from autologous cell line AG08527).
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_4K76 ! AG08527
SX   Male
AG   61Y
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 29-06-23; Version: 14
//
RX   CelloPub=CLPUB00597;
RG   National Institute on Aging;
RT   "1994 catalog of cell lines. NIA Aging Cell Repository.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda (1994).
//