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Cellosaurus UEFi002-A (CVCL_VN60)

[Text version]
Cell line name UEFi002-A
Synonyms LL008 1.4
Accession CVCL_VN60
Resource Identification Initiative To cite this cell line use: UEFi002-A (RRID:CVCL_VN60)
Comments From: University of Eastern Finland; Kuopio; Finland.
Population: Caucasian; Scandinavian.
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.Lys670_Met671delinsAsnLeu (c.2010_2011inv) (c.2010_2011delGAinsTC); ClinVar=VCV000018093; Zygosity=Heterozygous (PubMed=30099334).
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)
Sex of cell Female
Age at sampling 58Y
Category Induced pluripotent stem cell
Publications

PubMed=30099334; DOI=10.1016/j.scr.2018.07.024
Oksanen M., Hyotylainen I., Voutilainen J., Puttonen K.A., Hamalainen R.H., Graff C., Lehtonen S., Koistinaho J.
Generation of a human induced pluripotent stem cell line (LL008 1.4) from a familial Alzheimer's disease patient carrying a double KM670/671NL (Swedish) mutation in APP gene.
Stem Cell Res. 31:181-185(2018)

Cross-references
Cell line databases/resources hPSCreg; UEFi002-A
Encyclopedic resources Wikidata; Q98133867
Entry history
Entry creation07-Sep-2018
Last entry update29-Jun-2023
Version number8