ID   UNIBSi003-A
AC   CVCL_QX80
SY   MI37
DR   hPSCreg; UNIBSi003-A
DR   Wikidata; Q54991236
RX   PubMed=29034898;
CC   From: University of Brescia; Brescia; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 9005; PITX2; Simple; p.Met200Val (c.598A>G) (p.Met207Val, c.619A>G); ClinVar=VCV000559593; Zygosity=Heterozygous (PubMed=29034898).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C50466; Atrial fibrillation
DI   ORDO; Orphanet_334; Familial atrial fibrillation
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   24Y
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 29-06-23; Version: 8
//
RX   PubMed=29034898; DOI=10.1016/j.scr.2017.08.007;
RA   Mora C., Serzanti M., Giacomelli A., Beltramone S., Marchina E.,
RA   Bertini V., Piovani G., Refsgaard L., Olesen M.S., Cortellini V.,
RA   Dell'Era P.;
RT   "Generation of induced pluripotent stem cells (iPSC) from an atrial
RT   fibrillation patient carrying a PITX2 p.M200V mutation.";
RL   Stem Cell Res. 24:8-11(2017).
//