ID   GM05659T
AC   CVCL_ZU51
DR   Wikidata; Q98126374
RX   PubMed=27543334;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Thr408Met (c.1223C>T) (T369M); ClinVar=VCV000093447; Zygosity=Heterozygous (from parent cell line).
CC   Genetic integration: Method=Transfection/transduction; Gene=HGNC; 11730; TERT.
CC   Derived from site: In situ; Chest, skin; UBERON=UBERON_0001868.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_7434 ! GM05659
SX   Male
AG   1Y2M
CA   Telomerase immortalized cell line
DT   Created: 02-07-20; Last updated: 10-09-24; Version: 8
//
RX   PubMed=27543334; DOI=10.1073/pnas.1610020113; PMCID=PMC5018765;
RA   Reid-Bayliss K.S., Arron S.T., Loeb L.A., Bezrookove V., Cleaver J.E.;
RT   "Why Cockayne syndrome patients do not get cancer despite their DNA
RT   repair deficiency.";
RL   Proc. Natl. Acad. Sci. U.S.A. 113:10151-10156(2016).
//