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Cellosaurus AG06840 (CVCL_H793)

[Text version]
Cell line name AG06840
Synonyms AG 6840A; AG06840A; AG06840B
Accession CVCL_H793
Resource Identification Initiative To cite this cell line use: AG06840 (RRID:CVCL_H793)
Comments Part of: Canadian Alzheimer disease kindred subcollection.
Population: Caucasian.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 9508; PSEN1; Simple; p.Ala246Glu (c.737C>A); ClinVar=VCV000018125; Zygosity=Unspecified (PubMed=10408806; Coriell=AG06840).
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)
Hierarchy Children:
CVCL_YX94 (CS40iFAD-nxx)CVCL_A4PD (MUNIi005-A)
Originate from same individual CVCL_H794 ! AG06841
Sex of cell Male
Age at sampling 56Y
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=7847674; DOI=10.1111/j.1749-6632.1994.tb44413.x
Etcheberrigaray R., Gibson G.E., Alkon D.L.
Molecular mechanisms of memory and the pathophysiology of Alzheimer's disease.
Ann. N. Y. Acad. Sci. 747:245-255(1994)

PubMed=8643543; DOI=10.1073/pnas.93.10.5146; PMCID=PMC39422
Parshad R., Sanford K.K., Price F.M., Melnick L.K., Nee L.E., Schapiro M.B., Tarone R.E., Robbins J.H.
Fluorescent light-induced chromatid breaks distinguish Alzheimer disease cells from normal cells in tissue culture.
Proc. Natl. Acad. Sci. U.S.A. 93:5146-5150(1996)

Patent=US5773219
Sanford K.K., Parshad R., Robbins J.H.
Process for detecting Alzheimer disease using cultured cells.
Patent number US5773219, 30-Jun-1998

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)

Cross-references
Cell line collections (Providers) Coriell; AG06840
Cell line databases/resources CLO; CLO_0035530
Encyclopedic resources Wikidata; Q54740403
Entry history
Entry creation11-Feb-2013
Last entry update30-Jan-2024
Version number18