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Cellosaurus GM21921 (CVCL_IX38)

[Text version]
Cell line name GM21921
Accession CVCL_IX38
Resource Identification Initiative To cite this cell line use: GM21921 (RRID:CVCL_IX38)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Ile125fs*11 (r.378_384delTCCCCAG); Zygosity=Hemizygous (Coriell=GM21921).
Disease Severe neonatal encephalopathy due to MECP2 mutations (NCIt: C132293)
Severe neonatal-onset encephalopathy with microcephaly (ORDO: Orphanet_209370)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 1Y3M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM21921
Encyclopedic resources Wikidata; Q54852222
Entry history
Entry creation15-May-2017
Last entry update19-Dec-2024
Version number11