ID   GM08391
AC   CVCL_UT47
SY   GM08391A
DR   Coriell; GM08391
DR   Wikidata; Q93798914
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Asp1548Thrfs*14 (c.4638_4641GATA[1]) (c.4642_4645delGATA); ClinVar=VCV000232070; Zygosity=Heterozygous (from autologous cell line GM08436).
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Glu1978Ter (c.5932G>T); ClinVar=VCV000127414; Zygosity=Heterozygous (from autologous cell line GM08436).
CC   Discontinued: Coriell; GM08391; probable.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C2887; Ataxia telangiectasia syndrome
DI   ORDO; Orphanet_100; Ataxia telangiectasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_F208 ! GM08436
SX   Male
AG   5Y
CA   Finite cell line
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 11
//
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).
//