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Cellosaurus GM14817 (CVCL_H568)

[Text version]
Cell line name GM14817
Accession CVCL_H568
Resource Identification Initiative To cite this cell line use: GM14817 (RRID:CVCL_H568)
Comments Population: Hispanic.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:9706; NECTIN1; Simple; p.Trp185Ter (c.554G>A); ClinVar=VCV000008969; Zygosity=Homozygous (Coriell=GM14817).
Disease Cleft lip/palate-ectodermal dysplasia syndrome (NCIt: C122656)
Zlotogora-Ogur syndrome (ORDO: Orphanet_3253)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_H569 ! GM14818
Sex of cell Male
Age at sampling 24Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM14817
Cell line databases/resources CLO; CLO_0031939
Encyclopedic resources Wikidata; Q54847469
Entry history
Entry creation11-Feb-2013
Last entry update19-Dec-2024
Version number15