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Cellosaurus GM27241 (CVCL_UT83)

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Cell line name GM27241
Accession CVCL_UT83
Resource Identification Initiative To cite this cell line use: GM27241 (RRID:CVCL_UT83)
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.Arg230Cys (c.688C>T); ClinVar=VCV000803013; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27241).
  • Mutation; HGNC; HGNC:6111; IQGAP2; Simple; p.Gln953Ter (c.2857C>T); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27241).
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_YE54 ! GM27461
Sex of cell Male
Age at sampling 2Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27241
Encyclopedic resources Wikidata; Q93933100
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number12