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Cellosaurus GM27852 (CVCL_ZH95)

[Text version]
Cell line name GM27852
Accession CVCL_ZH95
Resource Identification Initiative To cite this cell line use: GM27852 (RRID:CVCL_ZH95)
Comments Population: Caucasian; Spanish.
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.Gly169Alafs*23 (c.506delG); ClinVar=VCV000471470; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27852).
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_YN66 ! GM27851
Sex of cell Female
Age at sampling 3Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27852
Encyclopedic resources Wikidata; Q98126629
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8