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Cellosaurus AG18375 (CVCL_X820)

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Cell line name AG18375
Accession CVCL_X820
Resource Identification Initiative To cite this cell line use: AG18375 (RRID:CVCL_X820)
Comments Population: Caucasian.
Karyotypic information: 47,XY,+7 [43]; 48,XY,+7,+7 [3]; 48,XXY,+7 [2]; 46,XY [2] (Coriell=AG18375).
Omics: Transcriptomics; Microarray.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:9949; RECQL4; Simple; c.1391-1G>A (g.2626G>A); ClinVar=VCV000006067; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=AG18375).
  • Mutation; HGNC; HGNC:9949; RECQL4; Simple; p.Cys525Alafs*33 (c.1573delT) (g.2886delT); ClinVar=VCV000006066; Zygosity=Heterozygous (Coriell=AG18375).
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_X819 ! AG18374
Sex of cell Male
Age at sampling 22Y
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; AG18375
Cell line databases/resources CLO; CLO_0011725
Encyclopedic resources Wikidata; Q54746784
Gene expression databases GEO; GSM476018
Entry history
Entry creation05-Sep-2014
Last entry update10-Apr-2025
Version number16