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Cellosaurus GM27461 (CVCL_YE54)

[Text version]
Cell line name GM27461
Accession CVCL_YE54
Resource Identification Initiative To cite this cell line use: GM27461 (RRID:CVCL_YE54)
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:3811; FOXG1; Simple; p.Arg230Cys (c.688C>T); ClinVar=VCV000803013; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27461).
  • Mutation; HGNC; HGNC:6111; IQGAP2; Simple; p.Gln953Ter (c.2857C>T); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27461).
Disease Rett syndrome, congenital variant (NCIt: C176903)
Atypical Rett syndrome (ORDO: Orphanet_3095)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_D6WY (GM29309)
Originate from same individual CVCL_UT83 ! GM27241
Sex of cell Male
Age at sampling 3Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM27461
Encyclopedic resources Wikidata; Q93933246
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number12