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Cellosaurus GM28873 (CVCL_D6XW)

[Text version]
Cell line name GM28873
Accession CVCL_D6XW
Resource Identification Initiative To cite this cell line use: GM28873 (RRID:CVCL_D6XW)
Comments Population: Latino or Hispanic and Caribbean; Haitian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:11497; SYNGAP1; Simple; p.Arg687Ter (c.2059C>T); ClinVar=VCV000411584; Zygosity=Heterozygous (Coriell=GM28873).
Disease Mental retardation, autosomal dominant 5 (NCIt: C178414)
Autosomal dominant non-syndromic intellectual disability (ORDO: Orphanet_178469)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 5Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM28873
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2