ID   AG17524
AC   CVCL_X815
DR   CLO; CLO_0011805
DR   Coriell; AG17524
DR   Wikidata; Q54746260
RX   PubMed=23001818;
CC   Population: Caucasian.
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=AG17524).
CC   Sequence variation: Mutation; HGNC; HGNC:9949; RECQL4; Simple; p.His831Argfs*52 (c.2492_2493delAT) (2-BP DEL,NT2492); ClinVar=VCV000006064; Zygosity=Heterozygous (Coriell=AG17524).
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   Female
AG   4Y
CA   Finite cell line
DT   Created: 05-09-14; Last updated: 19-12-24; Version: 17
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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).
//