Cellosaurus cell line HVRDi002-A (CVCL

Cross-references
Cell line name	HVRDi002-A
Synonyms	hFAD-2 clone a; fAD2; fAD-2A; TYP2-fADa
Accession	CVCL_JV25
Resource Identification Initiative	To cite this cell line use: HVRDi002-A (RRID:CVCL_JV25)
Comments	Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:620; APP; Simple; p.Val717Ile (c.2149G>A); ClinVar=VCV000018088; Zygosity=Heterozygous (PubMed=24524897).
Disease	Familial Alzheimer's disease, type 1 (NCIt: C146894) Early-onset autosomal dominant Alzheimer disease (ORDO: Orphanet_1020)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_JV26 ! HVRDi002-A-1
Sex of cell	Female
Age at sampling	33Y
Category	Induced pluripotent stem cell
Publications	PubMed=24524897; DOI=10.1093/hmg/ddu064; PMCID=PMC4049307 Muratore C.R., Rice H.C., Srikanth P., Callahan D.G., Shin T., Benjamin L.N.P., Walsh D.M., Selkoe D.J., Young-Pearse T.L. The familial Alzheimer's disease APPV717I mutation alters APP processing and Tau expression in iPSC-derived neurons. Hum. Mol. Genet. 23:3523-3536(2014)
Cell line collections (Providers)	WiCell; hvrdi002-a
Cell line databases/resources	hPSCreg; HVRDi002-A SKIP; SKIP001348
Encyclopedic resources	Wikidata; Q54896948
Entry history
Entry creation	22-Aug-2017
Last entry update	19-Dec-2024
Version number	14