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Cellosaurus GM25974 (CVCL_JF38)

[Text version]
Cell line name GM25974
Accession CVCL_JF38
Resource Identification Initiative To cite this cell line use: GM25974 (RRID:CVCL_JF38)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:2745; DDX3X; Simple; p.Tyr462Ilefs*3 (c.1383dupA); dbSNP=rs796052228; Zygosity=Homozygous (Coriell=GM25974).
Disease Mental retardation, X-linked 102 (NCIt: C129931)
X-linked intellectual disability-hypotonia-movement disorder syndrome (ORDO: Orphanet_457260)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 7Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM25974
Encyclopedic resources Wikidata; Q54854036
Entry history
Entry creation15-May-2017
Last entry update19-Dec-2024
Version number12