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Cellosaurus UOMELBi004-A (CVCL_E5E4)

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Cell line name UOMELBi004-A
Synonyms F114030c3AA3
Accession CVCL_E5E4
Resource Identification Initiative To cite this cell line use: UOMELBi004-A (RRID:CVCL_E5E4)
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:9508; PSEN1; Simple_corrected; p.His163Arg (c.488A>G); ClinVar=VCV000018124; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=39079290).
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)
Hierarchy Parent: CVCL_A8YT (F11430)
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=39079290; DOI=10.1016/j.scr.2024.103495; PMCID=PMC11608089
Damian Hernandez, Stephanie Morgan Schlicht, Jordan Elli Clarke, Maciej S. Daniszewski, Celeste M. Karch, Alison M. Goate, Alice Pebay;
Dominantly Inherited Alzheimer Network (DIAN)
Generation of a gene-corrected human isogenic iPSC line from an Alzheimer's disease iPSC line carrying the PSEN1 H163R mutation.
Stem Cell Res. 79:103495-103495(2024)

Cross-references
Cell line databases/resources hPSCreg; UOMELBi004-A
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1