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Cellosaurus GM27227 (CVCL_VV51)

[Text version]
Cell line name GM27227
Accession CVCL_VV51
Resource Identification Initiative To cite this cell line use: GM27227 (RRID:CVCL_VV51)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3811; FOXG1; Simple; p.Trp308Ter (c.924G>A); ClinVar=VCV000013871; Zygosity=Unspecified; Note=De novo mutation (Coriell=GM27227).
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_UT81 ! GM27190
Sex of cell Female
Age at sampling 6Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27227
Encyclopedic resources Wikidata; Q93933094
Entry history
Entry creation24-May-2019
Last entry update19-Dec-2024
Version number9