Cellosaurus cell line AG08523 (CVCL

Cross-references
Cell line name	AG08523
Accession	CVCL_4K72
Resource Identification Initiative	To cite this cell line use: AG08523 (RRID:CVCL_4K72)
Comments	Part of: German Alzheimer disease kindred subcollection. Population: Caucasian; German. Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:9508; PSEN1; Simple; p.Leu286Val (c.856C>G); ClinVar=VCV000018126; Zygosity=Unspecified (PubMed=10408806).
Disease	Alzheimer's disease 3 (NCIt: C123412) Early-onset autosomal dominant Alzheimer disease (ORDO: Orphanet_1020)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_4K71 ! AG08522
Sex of cell	Male
Age at sampling	43Y
Category	Finite cell line
Publications	CLPUB00597 National Institute on Aging 1994 catalog of cell lines. NIA Aging Cell Repository. (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda; USA (1994) PubMed=10408806; DOI=10.1006/nbdi.1999.0236 Geller L.N., Potter H. Chromosome missegregation and trisomy 21 mosaicism in Alzheimer's disease. Neurobiol. Dis. 6:167-179(1999)
Cell line collections (Providers)	Coriell; AG08523
Cell line databases/resources	CLO; CLO_0034335
Encyclopedic resources	Wikidata; Q54742156
Entry history
Entry creation	22-Sep-2015
Last entry update	19-Dec-2024
Version number	13