ID   AT22IJE-T
AC   CVCL_D566
DR   Wikidata; Q54750854
RX   PubMed=2539904;
RX   PubMed=9244351;
RX   PubMed=9357546;
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Leu762Valfs*2 (c.2282_2283CT[1]) (c.2284_2285delCT); ClinVar=VCV000141325; Zygosity=Unspecified (PubMed=9244351).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
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)
SX   Female
AG   5Y
CA   Transformed cell line
DT   Created: 22-10-12; Last updated: 29-06-23; Version: 13
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RX   PubMed=2539904;
RA   Ziv Y., Jaspers N.G.J., Etkin S., Danieli T., Trakhtenbrot L.,
RA   Amiel A., Ravia Y., Shiloh Y.;
RT   "Cellular and molecular characteristics of an immortalized
RT   ataxia-telangiectasia (group AB) cell line.";
RL   Cancer Res. 49:2495-2501(1989).
//
RX   PubMed=9244351; DOI=10.1038/sj.onc.1201319;
RA   Ziv Y., Bar-Shira A., Pecker I., Russell P., Jorgensen T.J.,
RA   Tsarfati I., Shiloh Y.;
RT   "Recombinant ATM protein complements the cellular A-T phenotype.";
RL   Oncogene 15:159-167(1997).
//
RX   PubMed=9357546; DOI=10.1016/s0027-5107(97)00119-x;
RA   Sprung C.N., Bryan T.M., Reddel R.R., Murnane J.P.;
RT   "Normal telomere maintenance in immortal ataxia telangiectasia cell
RT   lines.";
RL   Mutat. Res. 379:177-184(1997).
//