ID   GM02531
AC   CVCL_F080
SY   AT20IJE-F; GM2531; GM02531A
DR   CLO; CLO_0033410
DR   Coriell; GM02531
DR   Wikidata; Q54837536
RX   CelloPub=CLPUB00447;
CC   Population: Iranian.
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; c.2251del19; Zygosity=Heterozygous (Coriell=GM02531).
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; c.5675del88; Zygosity=Heterozygous (Coriell=GM02531).
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; c.6573del81; Zygosity=Heterozygous (Coriell=GM02531).
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)
OI   CVCL_F079 ! GM02782
SX   Male
AG   5Y
CA   Finite cell line
DT   Created: 22-10-12; Last updated: 30-01-24; Version: 19
//
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).
//