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Cellosaurus GM25994 (CVCL_JF42)

[Text version]
Cell line name GM25994
Accession CVCL_JF42
Resource Identification Initiative To cite this cell line use: GM25994 (RRID:CVCL_JF42)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:888; KIF1A; Simple; p.Gly484Ser (c.1450G>A); ClinVar=VCV000245898; Zygosity=Heterozygous (Coriell=GM25994).
Disease Mental retardation, autosomal dominant 9 (NCIt: C133742)
Autosomal dominant non-syndromic intellectual disability (ORDO: Orphanet_178469)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 6Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM25994
Encyclopedic resources Wikidata; Q54854059
Entry history
Entry creation15-May-2017
Last entry update19-Dec-2024
Version number12