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Cellosaurus GM23784 (CVCL_BW14)

[Text version]
Cell line name GM23784
Accession CVCL_BW14
Resource Identification Initiative To cite this cell line use: GM23784 (RRID:CVCL_BW14)
Comments Population: Caucasian.
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; c.532+5G>A (IVS7+5G>A); ClinVar=VCV000010056; Zygosity=Hemizygous (Coriell=GM23784).
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 16Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM23784
Encyclopedic resources Wikidata; Q54853307
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number13