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Cellosaurus AG18371 (CVCL_X816)

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Cell line name AG18371
Accession CVCL_X816
Resource Identification Initiative To cite this cell line use: AG18371 (RRID:CVCL_X816)
Comments Population: Mexican.
Omics: Transcriptomics; Microarray.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9949; RECQL4; Simple; c.1483+27_1483+37del (c.1483+25del11) (g.2746del11); ClinVar=VCV002431799; Zygosity=Homozygous (Coriell=AG18371).
Disease Rothmund-Thomson syndrome (NCIt: C3335)
Rothmund-Thomson syndrome (ORDO: Orphanet_2909)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_C7PE (AG28462)
Sex of cell Male
Age at sampling 12Y
Category Finite cell line
Publications

PubMed=19966276; DOI=10.1093/nar/gkp1103; PMCID=PMC2831322
Jay E. Johnson, Ka-Jia 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)

PubMed=23001818; DOI=10.1007/s11357-012-9476-9; PMCID=PMC3776094
Terence Davis, Hannah S.E. Tivey, Amy J.C. Brook, Julia W. Grimstead, Michal J. Rokicki, David Kipling;
Activation of p38 MAP kinase and stress signalling in fibroblasts from the progeroid Rothmund-Thomson syndrome.
Age (Dordr.) 35:1767-1783(2013)

Cross-references
Cell line collections (Providers) Coriell; AG18371
Cell line databases/resources CLO; CLO_0011729
Encyclopedic resources Wikidata; Q54746778
Gene expression databases GEO; GSM476017
Entry history
Entry creation05-Sep-2014
Last entry update10-Apr-2025
Version number13