ID   RJK 849
AC   CVCL_V564
SY   RJK849
DR   Wikidata; Q54950518
RX   PubMed=3296189;
RX   PubMed=6087154;
CC   Sequence variation: Mutation; HGNC; HGNC:5157; HPRT1; Unexplicit; Ex4-9del; Zygosity=Hemizygous (PubMed=3296189; PubMed=6087154).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C61255; Lesch-Nyhan syndrome
DI   ORDO; Orphanet_510; Lesch-Nyhan syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Transformed cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 10
//
RX   PubMed=3296189; DOI=10.1126/science.3296189;
RA   Caskey C.T.;
RT   "Disease diagnosis by recombinant DNA methods.";
RL   Science 236:1223-1229(1987).
//
RX   PubMed=6087154; DOI=10.1038/310412a0;
RA   Yang T.P., Patel P.I., Chinault A.C., Stout J.T., Jackson L.G.,
RA   Hildebrand B.M., Caskey C.T.;
RT   "Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan
RT   patients.";
RL   Nature 310:412-414(1984).
//