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Cellosaurus GM27851 (CVCL_YN66)

[Text version]
Cell line name GM27851
Accession CVCL_YN66
Resource Identification Initiative To cite this cell line use: GM27851 (RRID:CVCL_YN66)
Comments Population: Caucasian; Spanish.
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.Gly169Alafs*23 (c.506delG); ClinVar=VCV000471470; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27851).
Disease Rett syndrome, congenital variant (NCIt: C176903)
Atypical Rett syndrome (ORDO: Orphanet_3095)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_ZH95 ! GM27852
Sex of cell Female
Age at sampling 3Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM27851
Encyclopedic resources Wikidata; Q93933310
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number9