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   PubMed=3296189; DOI=10.1126/science.3296189;
RA   Caskey, Charles Thomas
RT   "Disease diagnosis by recombinant DNA methods.";
RL   Science 236:1223-1229(1987).
//
RX   PubMed=6087154; DOI=10.1038/310412a0;
RA   Yang, Thomas P.
RA   Patel, Pragna I.
RA   Chinault, Alan Craig
RA   Stout, John Timothy
RA   Jackson, Laird G.
RA   Hildebrand, Beth M.
RA   Caskey, Charles Thomas
RT   "Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan
RT   patients.";
RL   Nature 310:412-414(1984).
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon 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, Lewis Lemon
RA   Greene, Arthur 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).
//