ID   CUi001-A-1
AC   CVCL_A8ZC
SY   WB1-10 WRNKI-Cre18
DR   hPSCreg; CUi001-A-1
DR   Wikidata; Q108820094
RX   PubMed=34087989;
CC   From: Chiba University; Chiba; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 12791; WRN; Simple; p.Lys1046fs*14 (c.3139-1G>C) (IVS25-1G>C); ClinVar=VCV000005447; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=34087989).
CC   Sequence variation: Mutation; HGNC; 12791; WRN; Simple_corrected; p.Lys1046fs*14 (c.3139-1G>C) (IVS25-1G>C); ClinVar=VCV000005447; Zygosity=Heterozygous; Note=Splice acceptor mutation. By CRISPR/Cas9 (PubMed=34087989).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=34087989
ST   Amelogenin: X,Y
ST   CSF1PO: 12
ST   D10S1248: 12,13
ST   D12S391: 18,20
ST   D13S317: 10,12
ST   D16S539: 9,10
ST   D18S51: 19,20
ST   D19S433: 14,15.2
ST   D1S1656: 17
ST   D21S11: 29
ST   D22S1045: 11,17
ST   D2S1338: 19,22
ST   D2S441: 11,13
ST   D3S1358: 15,16
ST   D5S818: 9,10
ST   D7S820: 10
ST   D8S1179: 11,14
ST   DYS391: 10
ST   FGA: 19,26
ST   SE33: 17,21
ST   TH01: 9
ST   TPOX: 11,12
ST   vWA: 14,17
DI   NCIt; C3447; Werner syndrome
DI   ORDO; Orphanet_902; Werner syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A8ZB ! CUi001-A
SX   Male
AG   52Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34087989; DOI=10.1016/j.scr.2021.102360;
RA   Kato H., Maezawa Y., Ouchi Y., Takayama N., Sone M., Sone K.,
RA   Takada-Watanabe A., Tsujimura K., Koshizaka M., Nagasawa S.,
RA   Saitoh H., Ohtaka M., Nakanishi M., Tahara H., Shimamoto A., Iwama A.,
RA   Eto K., Yokote K.;
RT   "Generation of disease-specific and CRISPR/Cas9-mediated
RT   gene-corrected iPS cells from a patient with adult progeria Werner
RT   syndrome.";
RL   Stem Cell Res. 53:102360-102360(2021).
//