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Cellosaurus GM27967 (CVCL_C7LH)

[Text version]
Cell line name GM27967
Accession CVCL_C7LH
Resource Identification Initiative To cite this cell line use: GM27967 (RRID:CVCL_C7LH)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:20311; CHAMP1; Simple; p.Ser181Cysfs*5 (c.542_543delCT); ClinVar=VCV000217909; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27967).
Disease Mental retardation, autosomal dominant 40 (NCIt: C163754)
Autosomal dominant non-syndromic intellectual disability (ORDO: Orphanet_178469)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_C7LG ! GM27963
Sex of cell Female
Age at sampling 2Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27967
Encyclopedic resources Wikidata; Q117704359
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number4