ID   PORTU8010 fibroblast
AC   CVCL_A9F9
SY   R133L
DR   Wikidata; Q102114781
RX   PubMed=12927431;
RX   PubMed=23847654;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6636; LMNA; Simple; p.Arg133Leu (c.398G>T); ClinVar=VCV000014488; Zygosity=Heterozygous; Note=De novo mutation (PubMed=12927431; PubMed=23847654).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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)
OI   CVCL_A9G1 ! PORTU8010 LCL
SX   Female
AG   18Y
CA   Finite cell line
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 7
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RX   PubMed=12927431; DOI=10.1016/S0140-6736(03)14069-X;
RA   Chen L.-S., Lee L., Kudlow B.A., Dos Santos H.G., Sletvold O.,
RA   Shafeghati Y., Botha E.G., Garg A., Hanson N.B., Martin G.M.,
RA   Mian I.S., Kennedy B.K., Oshima J.;
RT   "LMNA mutations in atypical Werner's syndrome.";
RL   Lancet 362:440-445(2003).
//
RX   PubMed=23847654; DOI=10.3389/fgene.2013.00129; PMCID=PMC3701863;
RA   Saha B., Zitnik G., Johnson S., Nguyen Q., Risques R.A., Martin G.M.,
RA   Oshima J.;
RT   "DNA damage accumulation and TRF2 degradation in atypical Werner
RT   syndrome fibroblasts with LMNA mutations.";
RL   Front. Genet. 4:129.1-129.12(2013).
//