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Cellosaurus AG18374 (CVCL_X819)

[Text version]
Cell line name AG18374
Accession CVCL_X819
Resource Identification Initiative To cite this cell line use: AG18374 (RRID:CVCL_X819)
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:9949; RECQL4; Simple; c.1391-1G>A (g.2626G>A); ClinVar=VCV000006067; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=AG18374).
  • Mutation; HGNC; HGNC:9949; RECQL4; Simple; p.Cys525Alafs*33 (c.1573delT) (g.2886delT); ClinVar=VCV000006066; Zygosity=Heterozygous (Coriell=AG18374).
Disease Rothmund-Thomson syndrome (NCIt: C3335)
Rothmund-Thomson syndrome (ORDO: Orphanet_2909)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_X820 ! AG18375
Sex of cell Male
Age at sampling 22Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; AG18374
Cell line databases/resources CLO; CLO_0011724
Encyclopedic resources Wikidata; Q54746783
Entry history
Entry creation05-Sep-2014
Last entry update19-Dec-2024
Version number16