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Cellosaurus GM27871 (CVCL_A2SQ)

[Text version]
Cell line name GM27871
Accession CVCL_A2SQ
Resource Identification Initiative To cite this cell line use: GM27871 (RRID:CVCL_A2SQ)
Comments Population: Caucasian; Spanish (Chilean).
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.Ile190Asn (c.569T>A); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27871).
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_YN44 ! GM27600
Sex of cell Male
Age at sampling 1Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27871
Encyclopedic resources Wikidata; Q105507366
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6