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Cellosaurus AT2KYSVTG (CVCL_D5ID)

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Cell line name AT2KYSVTG
Accession CVCL_D5ID
Resource Identification Initiative To cite this cell line use: AT2KYSVTG (RRID:CVCL_D5ID)
Comments Population: Japanese.
Selected for resistance to: ChEBI; CHEBI_9555; Tioguanine (6-thioguanine; 6-TG).
Genetic integration: Method=Transfection; Gene=UniProtKB; P03070; Simian virus 40 (SV40) large T antigen (Note=pMK16).
Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:795; ATM; Simple; p.Lys1550Argfs*13 (c.4649delA); Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:795; ATM; Simple; p.Ile2629Serfs*24 (c.7881_7885TATTA[1]) (c.7883_7887delTTATA); ClinVar=VCV000230200; Zygosity=Heterozygous (from parent cell line).
Disease Ataxia telangiectasia syndrome (NCIt: C2887)
Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_RW85 (AT2KYSV)
Sex of cell Female
Age at sampling 4Y
Category Transformed cell line
Publications

PubMed=1944350; DOI=10.1016/0027-5107(91)90190-y
Yosuke Ejima, Mitsuo Oshimura, Masao S. Sasaki;
Determination of the chromosomal site for the human radiosensitive ataxia telangiectasia gene by chromosome transfer.
Mutat. Res. 250:337-343(1991)

Cross-references
Encyclopedic resources Wikidata; Q127380242
Entry history
Entry creation02-May-2024
Last entry update27-Nov-2025
Version number5