Cellosaurus cell line GM03467 (CVCL

Cellosaurus GM03467 (CVCL_L478)

Cross-references
Cell line name	GM03467
Synonyms	GM 3467; GM3467
Accession	CVCL_L478
Resource Identification Initiative	To cite this cell line use: GM03467 (RRID:CVCL_L478)
Comments	Population: Caucasian. Misspelling: RJK 3467; PubMed=3296189. Cell type: Fibroblast; CL=CL_0000057.
Sequence variations	Mutation; HGNC; HGNC:5157; HPRT1; Unexplicit; Ex7-9del; Zygosity=Hemizygous (PubMed=3296189; PubMed=6087154).
Disease	Lesch-Nyhan syndrome (NCIt: C61255) Lesch-Nyhan syndrome (ORDO: Orphanet_510)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	5D
Category	Finite cell line
Publications	PubMed=6087154; DOI=10.1038/310412a0 Yang T.P., Patel P.I., Chinault A.C., Stout J.T., Jackson L.G., Hildebrand B.M., Caskey C.T. Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients. Nature 310:412-414(1984) PubMed=3296189; DOI=10.1126/science.3296189 Caskey C.T. Disease diagnosis by recombinant DNA methods. Science 236:1223-1229(1987) CLPUB00447 Mulivor R.A., Suchy S.F. 1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992. (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)
Cell line collections (Providers)	Coriell; GM03467
Cell line databases/resources	CLO; CLO_0017028
Biological sample resources	BioSample; SAMN00808415
Encyclopedic resources	Wikidata; Q54838082
Entry history
Entry creation	06-May-2013
Last entry update	19-Dec-2024
Version number	15