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Cellosaurus CV-hIPS-B-APP-F691A/E693A clone D12 (CVCL_VR54)

[Text version]
Cell line name CV-hIPS-B-APP-F691A/E693A clone D12
Synonyms GM25430-APP-F691A/E693A clone D12; D12
Accession CVCL_VR54
Resource Identification Initiative To cite this cell line use: CV-hIPS-B-APP-F691A/E693A clone D12 (RRID:CVCL_VR54)
Comments Population: Caucasian.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:620; APP; Simple_edited; p.Phe691Ala (c.2071_2072TT>GC); Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=30686764).
  • Mutation; HGNC; HGNC:620; APP; Simple_edited; p.Glu693Ala (c.2078_2079AA>CC); Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=30686764).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_1N86 (CV-hIPS-B)
Sex of cell Male
Age at sampling 62Y
Category Induced pluripotent stem cell
Publications

PubMed=30686764; DOI=10.1016/j.stem.2018.12.013; PMCID=PMC6414424
van der Kant R., Langness V.F., Herrera C.M., Williams D.A., Fong L.K., Leestemaker Y., Steenvoorden E., Rynearson K.D., Brouwers J.F., Helms J.B., Ovaa H., Giera M., Wagner S.L., Bang A.G., Goldstein L.S.B.
Cholesterol metabolism is a druggable axis that independently regulates Tau and amyloid-beta in iPSC-derived Alzheimer's disease neurons.
Cell Stem Cell 24:363-375.e9(2019)

Cross-references
Encyclopedic resources Wikidata; Q93460585
Entry history
Entry creation13-Nov-2018
Last entry update19-Dec-2024
Version number11