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Cellosaurus L282F-hiPSC (CVCL_IJ22)

[Text version]
Cell line name L282F-hiPSC
Accession CVCL_IJ22
Resource Identification Initiative To cite this cell line use: L282F-hiPSC (RRID:CVCL_IJ22)
Comments From: Bioneer A/S; Horsholm; Denmark.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9508; PSEN1; Simple; p.Leu282Phe (c.844C>T); Zygosity=Heterozygous (PubMed=27789396).
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)
Sex of cell Male
Age at sampling 64Y
Category Induced pluripotent stem cell
Publications

PubMed=27789396; DOI=10.1016/j.scr.2016.09.016
Poon A., Li T., Pires C., Nielsen T.T., Nielsen J.E., Holst B., Dinnyes A., Hyttel P., Freude K.K.
Derivation of induced pluripotent stem cells from a familial Alzheimer's disease patient carrying the L282F mutation in presenilin 1.
Stem Cell Res. 17:470-473(2016)

Cross-references
Cell line databases/resources SKIP; SKIP001291
Encyclopedic resources Wikidata; Q54901005
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number12