Cellosaurus logo
expasy logo

Cellosaurus GM23814 (CVCL_BW16)

[Text version]
Cell line name GM23814
Accession CVCL_BW16
Resource Identification Initiative To cite this cell line use: GM23814 (RRID:CVCL_BW16)
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.Arg48His (c.143G>A); ClinVar=VCV000029985; Zygosity=Hemizygous (Coriell=GM23814).
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 42Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM23814
Encyclopedic resources Wikidata; Q54853326
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number13