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Cellosaurus GM20392 (CVCL_U305)

[Text version]
Cell line name GM20392
Accession CVCL_U305
Resource Identification Initiative To cite this cell line use: GM20392 (RRID:CVCL_U305)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:5157; HPRT1; Simple; p.Val8Gly (c.23T>G); ClinVar=VCV001410753; Zygosity=Hemizygous (Coriell=GM20392).
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 23Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM20392
Cell line databases/resources CLO; CLO_0029579
Encyclopedic resources Wikidata; Q54850999
Entry history
Entry creation03-Feb-2014
Last entry update19-Dec-2024
Version number15