ID   ATH16BE
AC   CVCL_F086
SY   ATH16Be; Ataxia Telangiectasia Heterozygote 16 BEthesda; GM03489; GM 3489; GM3489; GM03489A
DR   CLO; CLO_0016997
DR   BioSample; SAMN00808424
DR   Coriell; GM03489
DR   Wikidata; Q54838092
RX   CelloPub=CLPUB00447;
RX   PubMed=7104995;
RX   PubMed=11172010;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Lys2756Ter (c.8266A>T); ClinVar=VCV000135780; Zygosity=Heterozygous (Coriell=GM03489).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_F087 ! ATH16BE LCL
SX   Female
AG   37Y
CA   Finite cell line
DT   Created: 22-10-12; Last updated: 30-01-24; Version: 18
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=7104995;
RA   Kinsella T.J., Mitchell J.B., McPherson S., Russo A., Tietze F.;
RT   "In vitro X-ray sensitivity in ataxia telangiectasis homozygote and
RT   heterozygote skin fibroblasts under oxic and hypoxic conditions.";
RL   Cancer Res. 42:3950-3956(1982).
//
RX   PubMed=11172010; DOI=10.1073/pnas.041416598;
RA   Peretz S., Jensen R., Baserga R., Glazer P.M.;
RT   "ATM-dependent expression of the insulin-like growth factor-I receptor
RT   in a pathway regulating radiation response.";
RL   Proc. Natl. Acad. Sci. U.S.A. 98:1676-1681(2001).
//