ID   REGUi004-A
AC   CVCL_YM43
SY   BLM iPSC; BLOOM iPSC
DR   hPSCreg; REGUi004-A
DR   Wikidata; Q98128895
RX   CelloPub=CLPUB00552;
RX   PubMed=31918214;
CC   From: Institute for Regenerative Medecine and Biotherapy; Montpellier; France.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1058; BLM; Simple; p.Ser706Leufs*11 (c.2116delT); Zygosity=Homozygous (PubMed=31918214).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=31918214
ST   Amelogenin: X
ST   CSF1PO: 11
ST   D13S317: 8,12
ST   D16S539: 13
ST   D18S51: 14
ST   D21S11: 28,32
ST   D3S1358: 15,17
ST   D5S818: 12,13
ST   D7S820: 10,11
ST   D8S1179: 12,13
ST   FGA: 20,25
ST   Penta D: 9,11
ST   Penta E: 7
ST   TH01: 9,9.3
ST   TPOX: 8,9
ST   vWA: 16
DI   NCIt; C2903; Bloom syndrome
DI   ORDO; Orphanet_125; Bloom syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   18Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 5
//
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=31918214; DOI=10.1016/j.scr.2019.101696;
RA   Gatinois V., Desprat R., Becker F., Pichard L., Bernex F., Isidor B.,
RA   Pellestor F., Lemaitre J.-M.;
RT   "iPSC line derived from a Bloom syndrome patient retains an increased
RT   disease-specific sister-chromatid exchange activity.";
RL   Stem Cell Res. 43:101696-101696(2020).
//