ID   AG05013
AC   CVCL_X812
DR   CLO; CLO_0034893
DR   Coriell; AG05013
DR   GEO; GSM476016
DR   Wikidata; Q54739764
RX   CelloPub=CLPUB00597;
RX   PubMed=19966276;
CC   Sequence variation: Mutation; HGNC; HGNC:9949; RECQL4; Simple; c.2059-1G>T (IVS12AS,G-T,-1); ClinVar=VCV000006065; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=AG05013).
CC   Sequence variation: Mutation; HGNC; HGNC:9949; RECQL4; Simple; p.His831Argfs*52 (c.2492_2493delAT) (2-BP DEL,NT2492); ClinVar=VCV000006064; Zygosity=Heterozygous (Coriell=AG05013).
CC   Omics: Transcriptome analysis by microarray.
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3335; Rothmund-Thomson syndrome
DI   ORDO; Orphanet_2909; Rothmund-Thomson syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   10Y
CA   Finite cell line
DT   Created: 05-09-14; Last updated: 19-12-24; 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).
//
RX   PubMed=19966276; DOI=10.1093/nar/gkp1103; PMCID=PMC2831322;
RA   Johnson J.E., Cao K., Ryvkin P., Wang L.-S., Johnson F.B.;
RT   "Altered gene expression in the Werner and Bloom syndromes is
RT   associated with sequences having G-quadruplex forming potential.";
RL   Nucleic Acids Res. 38:1114-1122(2010).
//