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Cellosaurus F02/98 hTERT (CVCL_ZV77)

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Cell line name F02/98 hTERT
Accession CVCL_ZV77
Resource Identification Initiative To cite this cell line use: F02/98 hTERT (RRID:CVCL_ZV77)
Comments Population: Pakistani.
Genetic integration: Method=Transfection/transduction; Gene=HGNC; HGNC:11730; TERT.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • 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).
Disease Seckel syndrome (NCIt: C125488)
Seckel syndrome (ORDO: Orphanet_808)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_6G80 (GM18366)
Sex of cell Male
Age at sampling 6Y
Category Telomerase immortalized cell line
Publications

PubMed=18757420; DOI=10.1158/0008-5472.CAN-08-0545; PMCID=PMC2528059
Susanne Burdak-Rothkamm, Kai Rothkamm, Kevin M. Prise;
ATM acts downstream of ATR in the DNA damage response signaling of bystander cells.
Cancer Res. 68:7059-7065(2008)

Cross-references
Encyclopedic resources Wikidata; Q98125977
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number9