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Cellosaurus GM03467 (CVCL_L478)

[Text version]
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; 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)

Cross-references
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 creation06-May-2013
Last entry update29-Jun-2023
Version number14