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Cellosaurus GM27901 (CVCL_A5MK)

[Text version]
Cell line name GM27901
Accession CVCL_A5MK
Resource Identification Initiative To cite this cell line use: GM27901 (RRID:CVCL_A5MK)
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:11497; SYNGAP1; Simple; p.Arg1240Ter (c.3718C>T); ClinVar=VCV000225077; Zygosity=Heterozygous (Coriell=GM27901).
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)
Hierarchy Children:
CVCL_A5ML (GM27957)
Sex of cell Female
Age at sampling 3Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27901
Encyclopedic resources Wikidata; Q107115187
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number6