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Cellosaurus GM27321 (CVCL_A1UP)

[Text version]
Cell line name GM27321
Accession CVCL_A1UP
Resource Identification Initiative To cite this cell line use: GM27321 (RRID:CVCL_A1UP)
Comments Population: Caucasian; Hungarian.
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.Arg230Leu (c.689G>T); ClinVar=VCV000288531; Zygosity=Heterozygous (Coriell=GM27321).
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 Female
Age at sampling 6Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27321
Encyclopedic resources Wikidata; Q105507140
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6