Cellosaurus logo
expasy logo

Cellosaurus GM28007 (CVCL_B3SD)

[Text version]
Cell line name GM28007
Accession CVCL_B3SD
Resource Identification Initiative To cite this cell line use: GM28007 (RRID:CVCL_B3SD)
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:20311; CHAMP1; Simple; p.Ile486Tyrfs*2 (c.1455dup); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28007).
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)
Sex of cell Male
Age at sampling 1Y2M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28007
Encyclopedic resources Wikidata; Q110432829
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number6