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Cellosaurus GM27963 (CVCL_C7LG)

[Text version]
Cell line name GM27963
Accession CVCL_C7LG
Resource Identification Initiative To cite this cell line use: GM27963 (RRID:CVCL_C7LG)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:20311; CHAMP1; Simple; p.Ser181Cysfs*5 (c.542_543delCT); ClinVar=VCV000217909; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27963).
Disease Mental retardation, autosomal dominant 40 (NCIt: C163754)
Autosomal dominant non-syndromic intellectual disability (ORDO: Orphanet_178469)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_C7LH ! GM27967
Sex of cell Female
Age at sampling 2Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM27963
Encyclopedic resources Wikidata; Q117704358
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number4