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Cellosaurus GM27993 (CVCL_C7LP)

[Text version]
Cell line name GM27993
Accession CVCL_C7LP
Resource Identification Initiative To cite this cell line use: GM27993 (RRID:CVCL_C7LP)
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:9440; THAP12; Simple; p.Glu105Asnfs*2 (c.312delA); Zygosity=Heterozygous (Coriell=GM27993).
  • Mutation; HGNC; HGNC:9440; THAP12; Simple; p.Pro277Thr (c.829C>A); Zygosity=Heterozygous (Coriell=GM27993).
Disease Lennox-Gastaut syndrome (NCIt: C84816)
Lennox-Gastaut syndrome (ORDO: Orphanet_2382)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_C7LN ! GM27991
Sex of cell Female
Age at sampling 3Y10M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM27993
Encyclopedic resources Wikidata; Q117704367
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number4