ID   AG07645
AC   CVCL_V148
DR   CLO; CLO_0032961
DR   Coriell; AG07645
DR   Wikidata; Q54740997
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 child cell line ESi035-A).
CC   Donor information: At sampling donor was not affected with Alzheimer disease but has a 50% risk.
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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_V149 ! AG07646
SX   Female
AG   15Y6M
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 29-06-23; Version: 17
//
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).
//