ID   F96/224
AC   CVCL_WY35
SY   F96-224
DR   Wikidata; Q93549042
RX   PubMed=10416610;
RX   PubMed=16540517;
CC   Sequence variation: Mutation; HGNC; HGNC:17642; DCLRE1C; Simple; p.Leu70del (c.201_203GTT[2]) (c.207_209delGTT); dbSNP=rs753202682; Zygosity=Heterozygous (PubMed=16540517).
CC   Sequence variation: Mutation; HGNC; HGNC:17642; DCLRE1C; Simple; p.Gly126Asp (c.377G>A); Zygosity=Heterozygous (PubMed=16540517).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C162694; Severe combined immunodeficiency, Athabascan type
DI   ORDO; Orphanet_275; Severe combined immunodeficiency due to DCLRE1C deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4-5Y
CA   Finite cell line
DT   Created: 06-09-19; Last updated: 19-12-24; Version: 11
//
RX   PubMed=10416610;
RA   Peake J., Waugh A.P.W., Le Deist F., Priestley A., Rieux-Laucat F.,
RA   Foray N., Capulas E., Singleton B.K., de Villartay J.-P., Cant A.,
RA   Malaise E.-P., Fischer A., Hivroz C., Jeggo P.A.;
RT   "Combined immunodeficiency associated with increased apoptosis of
RT   lymphocytes and radiosensitivity fibroblasts.";
RL   Cancer Res. 59:3454-3460(1999).
//
RX   PubMed=16540517; DOI=10.1093/hmg/ddl050;
RA   Evans P.M., Woodbine L., Riballo E., Gennery A.R., Hubank M.,
RA   Jeggo P.A.;
RT   "Radiation-induced delayed cell death in a hypomorphic Artemis cell
RT   line.";
RL   Hum. Mol. Genet. 15:1303-1311(2006).
//