ID   REGUi003-A
AC   CVCL_XC58
SY   WRN iPSC; WERNER iPSC
DR   hPSCreg; REGUi003-A
DR   Wikidata; Q98128894
RX   CelloPub=CLPUB00552;
RX   PubMed=31404747;
CC   From: Institute for Regenerative Medecine and Biotherapy; Montpellier; France.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 12791; WRN; Simple; p.Tyr1263Ter (c.3789C>G); Zygosity=Homozygous (PubMed=31404747).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=31404747
ST   Amelogenin: X,Y
ST   CSF1PO: 12
ST   D13S317: 11,14
ST   D16S539: 12,13
ST   D18S51: 16,17
ST   D21S11: 30,31
ST   D3S1358: 16,18
ST   D5S818: 10,12
ST   D7S820: 9
ST   D8S1179: 10,15
ST   FGA: 21,23
ST   Penta D: 11,14
ST   Penta E: 5,13
ST   TH01: 7
ST   TPOX: 8,9
ST   vWA: 14,18
DI   NCIt; C3447; Werner syndrome
DI   ORDO; Orphanet_902; Werner syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   53Y
CA   Induced pluripotent stem cell
DT   Created: 06-09-19; Last updated: 29-06-23; Version: 6
//
RX   CelloPub=CLPUB00552;
RA   Gatinois V.;
RT   "Pathologies of helicases and premature aging: study by derivation of
RT   induced pluripotent stem cells.";
RL   Thesis PhD (2017), Universite de Montpellier, France.
//
RX   PubMed=31404747; DOI=10.1016/j.scr.2019.101515;
RA   Gatinois V., Desprat R., Becker F., Pichard L., Bernex F., Corsini C.,
RA   Pellestor F., Lemaitre J.-M.;
RT   "Reprogramming of human peripheral blood mononuclear cell (PBMC) from
RT   a patient suffering of a Werner syndrome resulting in iPSC line
RT   (REGUi003-A) maintaining a short telomere length.";
RL   Stem Cell Res. 39:101515-101515(2019).
//