ID   AG09908
AC   CVCL_T872
SY   AG09908*A
DR   CLO; CLO_0021929
DR   Coriell; AG09908
DR   Wikidata; Q54743097
RX   CelloPub=CLPUB00597;
RX   PubMed=10408806;
RX   PubMed=21900357;
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; 9509; PSEN2; Simple; p.Asn141Ile (c.422A>T); ClinVar=VCV000008845; Zygosity=Heterozygous (PubMed=10408806; Coriell=AG09908).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C123413; Alzheimer's disease 4
DI   ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   81Y
CA   Finite cell line
DT   Created: 03-02-14; Last updated: 30-01-24; 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).
//
RX   PubMed=10408806; DOI=10.1006/nbdi.1999.0236;
RA   Geller L.N., Potter H.;
RT   "Chromosome missegregation and trisomy 21 mosaicism in Alzheimer's
RT   disease.";
RL   Neurobiol. Dis. 6:167-179(1999).
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RX   PubMed=21900357; DOI=10.1093/hmg/ddr394;
RA   Yagi T., Ito D., Okada Y., Akamatsu W., Nihei Y., Yoshizaki T.,
RA   Yamanaka S., Okano H., Suzuki N.;
RT   "Modeling familial Alzheimer's disease with induced pluripotent stem
RT   cells.";
RL   Hum. Mol. Genet. 20:4530-4539(2011).
//