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Cellosaurus AT-LD2 (CVCL_VL02)

Cell line name AT-LD2
Synonyms ATLD2
Accession CVCL_VL02
Resource Identification Initiative To cite this cell line use: AT-LD2 (RRID:CVCL_VL02)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 7230; MRE11; Simple; p.Arg633Ter (c.1897C>T); ClinVar=VCV000008782; Zygosity=Homozygous (PubMed=10612394).
Disease Ataxia-telangiectasia-like disorder 1 (NCIt: C132224)
Ataxia-telangiectasia-like disorder (ORDO: Orphanet_251347)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_VL03 (AT-LD2-hTERT)
Sex of cell Male
Age at sampling 20Y
Category Finite cell line
Publications

PubMed=10612394; DOI=10.1016/S0092-8674(00)81547-0
Stewart G.S., Maser R.S., Stankovic T., Bressan D.A., Kaplan M.I., Jaspers N.G.J., Raams A., Byrd P.J., Petrini J.H.J., Taylor A.M.R.
The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder.
Cell 99:577-587(1999)

PubMed=12446774; DOI=10.1128/mcb.22.24.8552-8561.2002
Heffernan T.P., Simpson D.A., Frank A.R., Heinloth A.N., Paules R.S., Cordeiro-Stone M., Kaufmann W.K.
An ATR- and Chk1-dependent S checkpoint inhibits replicon initiation following UVC-induced DNA damage.
Mol. Cell. Biol. 22:8552-8561(2002)

PubMed=15574327; DOI=10.1016/j.molcel.2004.10.029
Riballo E., Kuhne M., Rief N., Doherty A., Smith G.C.M., Recio M.-J., Reis C., Dahm K., Fricke A., Krempler A., Parker A.R., Jackson S.P., Gennery A.R., Jeggo P.A., Lobrich M.
A pathway of double-strand break rejoining dependent upon ATM, Artemis, and proteins locating to gamma-H2AX foci.
Mol. Cell 16:715-724(2004)

Cross-references
Encyclopedic resources Wikidata; Q93326264
Entry history
Entry creation07-Sep-2018
Last entry update29-Jun-2023
Version number8