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Cellosaurus UOMELBi002-A (CVCL_A8YZ)

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Cell line name UOMELBi002-A
Synonyms F16574c3_A_A1_G8; F16574c3_AAG8
Accession CVCL_A8YZ
Resource Identification Initiative To cite this cell line use: UOMELBi002-A (RRID:CVCL_A8YZ)
Comments From: University of Melbourne; Melbourne; Australia.
Population: Caucasian.
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_corrected; p.Val717Ile (c.2149G>A); ClinVar=VCV000018088; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=34088002).
Disease Alzheimer's disease 1 (NCIt: C146894)
Early-onset autosomal dominant Alzheimer disease (ORDO: Orphanet_1020)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A8YY (F16574)
Sex of cell Sex unspecified
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=34088002; DOI=10.1016/j.scr.2021.102373; PMCID=PMC10084742
Damian Hernandez, Stephanie Morgan Schlicht, Maciej S. Daniszewski, Celeste M. Karch, Alison M. Goate, Alice Pebay;
Generation of a gene-corrected human isogenic iPSC line from an Alzheimer's disease iPSC line carrying the London mutation in APP (V717I).
Stem Cell Res. 53:102373-102373(2021)

Cross-references
Cell line databases/resources hPSCreg; UOMELBi002-A
Biological sample resources BioSamples; SAMEA110403319
Encyclopedic resources Wikidata; Q108821465
Entry history
Entry creation23-Sep-2021
Last entry update10-Apr-2025
Version number9