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Cellosaurus A79V-GC-hiPSC (CVCL_A4MY)

[Text version]
Cell line name A79V-GC-hiPSC
Accession CVCL_A4MY
Resource Identification Initiative To cite this cell line use: A79V-GC-hiPSC (RRID:CVCL_A4MY)
Comments From: University of Copenhagen; Copenhagen; 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_corrected; p.Ala79Val (c.236C>T); ClinVar=VCV000018157; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=27879212).
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_DQ85 (A79V-hiPSC)
Sex of cell Female
Age at sampling 48Y
Category Induced pluripotent stem cell
Publications

PubMed=27345973; DOI=10.1016/j.scr.2016.01.002
Li T., Pires C., Nielsen T.T., Waldemar G., Hjermind L.E., Nielsen J.E., Dinnyes A., Hyttel P., Freude K.K.
Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying an A79V mutation in PSEN1.
Stem Cell Res. 16:229-232(2016)

PubMed=27879212; DOI=10.1016/j.scr.2016.08.002
Pires C., Schmid B., Petraeus C., Poon A., Nimsanor N., Nielsen T.T., Waldemar G., Hjermind L.E., Nielsen J.E., Hyttel P., Freude K.K.
Generation of a gene-corrected isogenic control cell line from an Alzheimer's disease patient iPSC line carrying a A79V mutation in PSEN1.
Stem Cell Res. 17:285-288(2016)

Cross-references
Encyclopedic resources Wikidata; Q105506041
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number7