ID   F02/98 hTERT
AC   CVCL_ZV77
DR   Wikidata; Q98125977
RX   PubMed=18757420;
CC   Population: Pakistani.
CC   Sequence variation: Mutation; HGNC; HGNC:882; ATR; Simple; p.Gly674Gly (c.2022A>G) (2101A>G); ClinVar=VCV000008307; Zygosity=Homozygous; Note=Silent mutation that causes increased levels of skipping exon 9 and activation of two cryptic splicing events from sites in exon 9 leading to termination in exon 10 (from parent cell line).
CC   Genetic integration: Method=Transfection/transduction; Gene=HGNC; HGNC:11730; TERT.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C125488; Seckel syndrome
DI   ORDO; Orphanet_808; Seckel syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_6G80 ! GM18366
SX   Male
AG   6Y
CA   Telomerase immortalized cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 9
//
RX   PubMed=18757420; DOI=10.1158/0008-5472.CAN-08-0545; PMCID=PMC2528059;
RA   Burdak-Rothkamm, Susanne
RA   Rothkamm, Kai
RA   Prise, Kevin M.
RT   "ATM acts downstream of ATR in the DNA damage response signaling of
RT   bystander cells.";
RL   Cancer Res. 68:7059-7065(2008).
//