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Cellosaurus A79V-GC-hiPSC (CVCL_A4MY)

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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
Tong Li, Carlota Pires, Troels T. Nielsen, Gunhild Waldemar, Lena Elisabeth Hjermind, Jorgen E. Nielsen, Andras Dinnyes, Poul Hyttel, Kristine Karla Freude;
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
Carlota Pires, Benjamin Schmid, Carina Petraeus, Anna Poon, Natakarn Nimsanor, Troels T. Nielsen, Gunhild Waldemar, Lena Elisabeth Hjermind, Jorgen E. Nielsen, Poul Hyttel, Kristine Karla Freude;
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