ID   AG04110
AC   CVCL_U311
DR   CLO; CLO_0034776
DR   Coriell; AG04110
DR   GEO; GSM1535463
DR   GEO; GSM1535468
DR   Wikidata; Q54609925
RX   CelloPub=CLPUB00597;
RX   PubMed=26984941;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6636; LMNA; Simple; p.Glu578Val (c.1733A>T); ClinVar=VCV000066863; Zygosity=Heterozygous (Coriell=AG04110).
CC   Omics: Transcriptomics; Microarray.
CC   Omics: Transcriptomics; miRNA profiling; Microarray.
CC   Caution: Is stated not be from a Werner syndrome patient by PubMed=26984941.
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3447; Werner syndrome
DI   ORDO; Orphanet_79474; Atypical Werner syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   13Y
CA   Finite cell line
DT   Created: 03-02-14; Last updated: 10-04-25; Version: 17
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RX   CelloPub=CLPUB00597;
RG   National Institute on Aging;
RT   "1994 catalog of cell lines. NIA Aging Cell Repository.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda; USA (1994).
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RX   PubMed=26984941; DOI=10.1093/hmg/ddw079; PMCID=PMC5062591;
RA   Tang W.-L., Robles A.I., Beyer R.P., Graybuck L.T., Nguyen G.H.,
RA   Oshima J., Maizels N., Harris C.C., Monnat R.J. Jr.;
RT   "The Werner syndrome RECQ helicase targets G4 DNA in human cells to
RT   modulate transcription.";
RL   Hum. Mol. Genet. 25:2060-2069(2016).
//