ID   AG18371
AC   CVCL_X816
DR   CLO; CLO_0011729
DR   Coriell; AG18371
DR   GEO; GSM476017
DR   Wikidata; Q54746778
RX   PubMed=19966276;
RX   PubMed=23001818;
CC   Population: Mexican.
CC   Sequence variation: Mutation; HGNC; HGNC:9949; RECQL4; Simple; c.1483+27_1483+37del (c.1483+25del11) (g.2746del11); ClinVar=VCV002431799; Zygosity=Homozygous (Coriell=AG18371).
CC   Omics: Transcriptomics; Microarray.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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   12Y
CA   Finite cell line
DT   Created: 05-09-14; Last updated: 10-04-25; Version: 13
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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).
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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).
//