ID   GM02227
AC   CVCL_L487
SY   GM-2227; GM 2227; GM2227
DR   CLO; CLO_0032249
DR   Coriell; GM02227
DR   Wikidata; Q54837381
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=3296189;
RX   PubMed=6087154;
CC   Sequence variation: Mutation; HGNC; HGNC:5157; HPRT1; Unexplicit; Ex6-9del/inv; Zygosity=Hemizygous (PubMed=3296189).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C61255; Lesch-Nyhan syndrome
DI   ORDO; Orphanet_510; Lesch-Nyhan syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   12Y
CA   Finite cell line
DT   Created: 06-05-13; Last updated: 19-12-24; Version: 15
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//
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).
//