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Cellosaurus AG05013 (CVCL_X812)

[Text version]
Cell line name AG05013
Accession CVCL_X812
Resource Identification Initiative To cite this cell line use: AG05013 (RRID:CVCL_X812)
Comments Omics: Transcriptomics; Microarray.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9949; RECQL4; Simple; c.2059-1G>T (IVS12AS,G-T,-1); ClinVar=VCV000006065; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=AG05013).
  • Mutation; HGNC; HGNC:9949; RECQL4; Simple; p.His831Argfs*52 (c.2492_2493delAT) (2-BP DEL,NT2492); ClinVar=VCV000006064; Zygosity=Heterozygous (Coriell=AG05013).
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 10Y
Category Finite cell line
Publications

CLPUB00597
National Institute on Aging
1994 catalog of cell lines. NIA Aging Cell Repository.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda; USA (1994)

PubMed=19966276; DOI=10.1093/nar/gkp1103; PMCID=PMC2831322
Jay E. Johnson, Kajia Cao, Paul Ryvkin, Li-San Wang, F. Brad Johnson;
Altered gene expression in the Werner and Bloom syndromes is associated with sequences having G-quadruplex forming potential.
Nucleic Acids Res. 38:1114-1122(2010)

Cross-references
Cell line collections (Providers) Coriell; AG05013
Cell line databases/resources CLO; CLO_0034893
Encyclopedic resources Wikidata; Q54739764
Gene expression databases GEO; GSM476016
Entry history
Entry creation05-Sep-2014
Last entry update10-Apr-2025
Version number18