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Cellosaurus GM27613 (CVCL_A2QR)

[Text version]
Cell line name GM27613
Accession CVCL_A2QR
Resource Identification Initiative To cite this cell line use: GM27613 (RRID:CVCL_A2QR)
Comments Population: Caucasian; British.
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.Glu154Glyfs*301 (c.460dupG); ClinVar=VCV000095268; Zygosity=Heterozygous (Coriell=GM27613).
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_C7L3 (GM27620)
Sex of cell Female
Age at sampling 2Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM27613
Encyclopedic resources Wikidata; Q105507200
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number7