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Cellosaurus GM27192 (CVCL_YN29)

[Text version]
Cell line name GM27192
Accession CVCL_YN29
Resource Identification Initiative To cite this cell line use: GM27192 (RRID:CVCL_YN29)
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.Lys208Serfs*13 (c.623delA); ClinVar=VCV000432784; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27192).
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; GM27192
Encyclopedic resources Wikidata; Q93933065
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number9