ID   AG18375
AC   CVCL_X820
DR   CLO; CLO_0011725
DR   Coriell; AG18375
DR   GEO; GSM476018
DR   Wikidata; Q54746784
RX   PubMed=19966276;
RX   PubMed=23001818;
CC   Population: Caucasian.
CC   Karyotypic information: 47,XY,+7 [43]; 48,XY,+7,+7 [3]; 48,XXY,+7 [2]; 46,XY [2] (Coriell=AG18375).
CC   Sequence variation: Mutation; HGNC; HGNC:9949; RECQL4; Simple; c.1391-1G>A (g.2626G>A); ClinVar=VCV000006067; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=AG18375).
CC   Sequence variation: Mutation; HGNC; HGNC:9949; RECQL4; Simple; p.Cys525Alafs*33 (c.1573delT) (g.2886delT); ClinVar=VCV000006066; Zygosity=Heterozygous (Coriell=AG18375).
CC   Omics: Transcriptome analysis by microarray.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C3335; Rothmund-Thomson syndrome
DI   ORDO; Orphanet_2909; Rothmund-Thomson syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_X819 ! AG18374
SX   Male
AG   22Y
CA   Finite cell line
DT   Created: 05-09-14; Last updated: 19-12-24; Version: 15
//
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).
//
RX   PubMed=23001818; DOI=10.1007/s11357-012-9476-9; PMCID=PMC3776094;
RA   Davis T., Tivey H.S.E., Brook A.J.C., Grimstead J.W., Rokicki M.J.,
RA   Kipling D.;
RT   "Activation of p38 MAP kinase and stress signalling in fibroblasts
RT   from the progeroid Rothmund-Thomson syndrome.";
RL   Age (Dordr.) 35:1767-1783(2013).
//