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Cellosaurus HVRDi001-A-1 (CVCL_JV24)

[Text version]
Cell line name HVRDi001-A-1
Synonyms hFAD-1 clone b; fAD1; fAD-1A; TYP1fADb
Accession CVCL_JV24
Resource Identification Initiative To cite this cell line use: HVRDi001-A-1 (RRID:CVCL_JV24)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; 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_JV23 ! HVRDi001-A
Sex of cell Male
Age at sampling 57Y
Category Induced pluripotent stem cell
Publications

PubMed=24524897; DOI=10.1093/hmg/ddu064
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)

Cross-references
Cell line collections (Providers) WiCell; hvrdi001-a-1
Cell line databases/resources hPSCreg; HVRDi001-A-1
SKIP; SKIP001347
Encyclopedic resources Wikidata; Q54896947
Entry history
Entry creation22-Aug-2017
Last entry update29-Jun-2023
Version number13