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Cellosaurus GM27190 (CVCL_UT81)

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Cell line name GM27190
Accession CVCL_UT81
Resource Identification Initiative To cite this cell line use: GM27190 (RRID:CVCL_UT81)
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.Trp308Ter (c.924G>A); ClinVar=VCV000013871; Zygosity=Unspecified; Note=De novo mutation (Coriell=GM27190).
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_C7LW (GM28576)
Originate from same individual CVCL_VV51 ! GM27227
Sex of cell Female
Age at sampling 6Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM27190
Encyclopedic resources Wikidata; Q93933062
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number12