ID   AT2KYSV
AC   CVCL_RW85
DR   JCRB; JCRB3061
DR   JCRB; KURB1780
DR   Wikidata; Q54750907
RX   PubMed=1944350;
RX   PubMed=1978855;
CC   Population: Japanese.
CC   Doubling time: 23 hours (Note=At 135th passage) (PubMed=1978855).
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   Discontinued: JCRB; KURB1780; probable.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB=JCRB3061
ST   Amelogenin: X
ST   CSF1PO: 10,12
ST   D13S317: 11,12
ST   D16S539: 12
ST   D5S818: 9,10
ST   D7S820: 11
ST   TH01: 7,9
ST   TPOX: 9,12
ST   vWA: 18
DI   NCIt; C2887; Ataxia telangiectasia syndrome
DI   ORDO; Orphanet_100; Ataxia telangiectasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_2861 ! AT2KY
SX   Female
AG   4Y
CA   Transformed cell line
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 16
//
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).
//
RX   PubMed=1978855; DOI=10.1080/09553009014552301;
RA   Ejima Y., Oshimura M., Sasaki M.S.;
RT   "Establishment of a novel immortalized cell line from ataxia
RT   telangiectasia fibroblasts and its use for the chromosomal assignment
RT   of radiosensitivity gene.";
RL   Int. J. Radiat. Biol. 58:989-997(1990).
//