ID   AG08711
AC   CVCL_4P82
DR   CLO; CLO_0031389
DR   Coriell; AG08711
DR   Wikidata; Q54742454
RX   CelloPub=CLPUB00597;
CC   Part of: Canadian Alzheimer disease kindred subcollection.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:9508; PSEN1; Simple; p.Ala246Glu (c.737C>A); ClinVar=VCV000018125; Zygosity=Unspecified (Coriell=AG08711).
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_4P81 ! AG08710
SX   Female
AG   34Y
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 13
//
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).
//