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Cellosaurus 180BRhTERT (CVCL_WX36)

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Cell line name 180BRhTERT
Synonyms 180BRhT
Accession CVCL_WX36
Resource Identification Initiative To cite this cell line use: 180BRhTERT (RRID:CVCL_WX36)
Comments Genetic integration: Method=Transfection/transduction; Gene=HGNC; HGNC:11730; TERT.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6601; LIG4; Simple; p.Arg278His (c.833G>A); ClinVar=VCV000007675; Zygosity=Unspecified (from parent cell line).
Disease LIG4 syndrome (NCIt: C122657)
LIG4 syndrome (ORDO: Orphanet_99812)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_2278 (180BR)
Sex of cell Male
Age at sampling 15Y
Category Telomerase immortalized cell line
Publications

PubMed=19056826; DOI=10.1093/nar/gkn957; PMCID=PMC2632933
Enriqueta Riballo, Lisa Woodbine, Thomas Stiff, Sarah A. Walker, Aaron A. Goodarzi, Penelope Ann Jeggo;
XLF-Cernunnos promotes DNA ligase IV-XRCC4 re-adenylation following ligation.
Nucleic Acids Res. 37:482-492(2009)

Cross-references
Encyclopedic resources Wikidata; Q93300273
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number9