ID   AT2KYSVTG
AC   CVCL_D5ID
DR   Wikidata; Q127380242
RX   PubMed=1944350;
CC   Population: Japanese.
CC   Selected for resistance to: ChEBI; CHEBI_9555; Tioguanine (6-thioguanine; 6-TG).
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Lys1550Argfs*13 (c.4649delA); Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Ile2629Serfs*24 (c.7881_7885TATTA[1]) (c.7883_7887delTTATA); ClinVar=VCV000230200; Zygosity=Heterozygous (from parent cell line).
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P03070; SV40 large T antigen.
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pMK16).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C2887; Ataxia telangiectasia syndrome
DI   ORDO; Orphanet_100; Ataxia telangiectasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_RW85 ! AT2KYSV
SX   Female
AG   4Y
CA   Transformed cell line
DT   Created: 02-05-24; Last updated: 19-12-24; Version: 3
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RX   PubMed=1944350; DOI=10.1016/0027-5107(91)90190-y;
RA   Ejima Y., Oshimura M., Sasaki M.S.;
RT   "Determination of the chromosomal site for the human radiosensitive
RT   ataxia telangiectasia gene by chromosome transfer.";
RL   Mutat. Res. 250:337-343(1991).
//