ID   AT-LD2
AC   CVCL_VL02
SY   ATLD2
DR   Wikidata; Q93326264
RX   PubMed=10612394;
RX   PubMed=12446774;
RX   PubMed=15574327;
CC   Sequence variation: Mutation; HGNC; HGNC:7230; MRE11; Simple; p.Arg633Ter (c.1897C>T); ClinVar=VCV000008782; Zygosity=Homozygous (PubMed=10612394).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C132224; Ataxia-telangiectasia-like disorder 1
DI   ORDO; Orphanet_251347; Ataxia-telangiectasia-like disorder
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   20Y
CA   Finite cell line
DT   Created: 07-09-18; Last updated: 19-12-24; Version: 9
//
RX   PubMed=10612394; DOI=10.1016/S0092-8674(00)81547-0;
RA   Stewart G.S., Maser R.S., Stankovic T., Bressan D.A., Kaplan M.I.,
RA   Jaspers N.G.J., Raams A., Byrd P.J., Petrini J.H.J., Taylor A.M.R.;
RT   "The DNA double-strand break repair gene hMRE11 is mutated in
RT   individuals with an ataxia-telangiectasia-like disorder.";
RL   Cell 99:577-587(1999).
//
RX   PubMed=12446774; DOI=10.1128/mcb.22.24.8552-8561.2002; PMCID=PMC139882;
RA   Heffernan T.P., Simpson D.A., Frank A.R., Heinloth A.N., Paules R.S.,
RA   Cordeiro-Stone M., Kaufmann W.K.;
RT   "An ATR- and Chk1-dependent S checkpoint inhibits replicon initiation
RT   following UVC-induced DNA damage.";
RL   Mol. Cell. Biol. 22:8552-8561(2002).
//
RX   PubMed=15574327; DOI=10.1016/j.molcel.2004.10.029;
RA   Riballo E., Kuhne M., Rief N., Doherty A.J., Smith G.C.M., Recio M.-J.,
RA   Reis C., Dahm K., Fricke A., Krempler A., Parker A.R., Jackson S.P.,
RA   Gennery A.R., Jeggo P.A., Lobrich M.;
RT   "A pathway of double-strand break rejoining dependent upon ATM,
RT   Artemis, and proteins locating to gamma-H2AX foci.";
RL   Mol. Cell 16:715-724(2004).
//