ID   AT22IJE-T pEBS7
AC   CVCL_F635
SY   GM16666; pEBS
DR   CLO; CLO_0017459
DR   Coriell; GM16666
DR   Wikidata; Q54848692
RX   PubMed=9244351;
RX   PubMed=19962312;
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Leu762Valfs*2 (c.2282_2283CT[1]) (c.2284_2285delCT); ClinVar=VCV000141325; Zygosity=Unspecified (from parent cell line).
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)
HI   CVCL_D566 ! AT22IJE-T
SX   Female
AG   5Y
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 19-12-24; Version: 14
//
RX   PubMed=9244351; DOI=10.1038/sj.onc.1201319;
RA   Ziv Y., Bar-Shira A., Pecker I., Russell P., Jorgensen T.J.,
RA   Tsarfaty I., Shiloh Y.;
RT   "Recombinant ATM protein complements the cellular A-T phenotype.";
RL   Oncogene 15:159-167(1997).
//
RX   PubMed=19962312; DOI=10.1016/j.cub.2009.10.040; PMCID=PMC4861209;
RA   Hamilton G., Yee K.S., Scrace S., O'Neill E.;
RT   "ATM regulates a RASSF1A-dependent DNA damage response.";
RL   Curr. Biol. 19:2020-2025(2009).
//