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Cellosaurus AG18465 (CVCL_X824)

[Text version]
Cell line name AG18465
Accession CVCL_X824
Resource Identification Initiative To cite this cell line use: AG18465 (RRID:CVCL_X824)
Comments 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; p.Gln810Ter (c.2428C>T) (g.4503C>T); Zygosity=Homozygous (Coriell=AG18465).
Disease Rothmund-Thomson syndrome (NCIt: C3335)
Rothmund-Thomson syndrome (ORDO: Orphanet_2909)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 13Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; AG18465
Cell line databases/resources CLO; CLO_0011738
Encyclopedic resources Wikidata; Q54746798
Entry history
Entry creation05-Sep-2014
Last entry update19-Dec-2024
Version number12