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Cellosaurus GM27848 (CVCL_YN63)

[Text version]
Cell line name GM27848
Accession CVCL_YN63
Resource Identification Initiative To cite this cell line use: GM27848 (RRID:CVCL_YN63)
Comments Population: Jewish.
Derived from site: In situ; Leg, skin; UBERON=UBERON_0001511.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3811; FOXG1; Simple; p.Gln86Profs*35 (c.256dupC); ClinVar=VCV000189613; Zygosity=Heterozygous (Coriell=GM27848).
Disease Rett syndrome, congenital variant (NCIt: C176903)
Atypical Rett syndrome (ORDO: Orphanet_3095)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 6M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM27848
Encyclopedic resources Wikidata; Q93933305
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number11