ID   UNIBSi001-A
AC   CVCL_QX79
SY   M016
DR   hPSCreg; UNIBSi001-A
DR   Wikidata; Q54991234
RX   PubMed=29034891;
CC   From: University of Brescia; Brescia; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6224; KCNA5; Simple; p.Asp322His (c.964G>C); ClinVar=VCV000469603; Zygosity=Heterozygous (PubMed=29034891).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=29034891
ST   Amelogenin: X,Y
ST   CSF1PO: 10
ST   D10S1248: 14,15
ST   D12S391: 22,23
ST   D13S317: 8,12
ST   D16S539: 9,11
ST   D18S51: 12,17
ST   D19S433: 14,15
ST   D1S1656: 12,16
ST   D21S11: 26,31.2
ST   D22S1045: 15
ST   D2S1338: 17,20
ST   D2S441: 11,14
ST   D3S1358: 14,17
ST   D5S818: 11,12
ST   D7S820: 7,12
ST   D8S1179: 13
ST   FGA: 21,22
ST   SE33: 28.2,32.2
ST   TH01: 9
ST   TPOX: 9,12
ST   vWA: 17
DI   NCIt; C50466; Atrial fibrillation
DI   ORDO; Orphanet_334; Familial atrial fibrillation
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   35Y
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 29-06-23; Version: 8
//
RX   PubMed=29034891; DOI=10.1016/j.scr.2017.08.009;
RA   Mora C., Serzanti M., Giacomelli A., Turco V., Marchina E.,
RA   Bertini V., Piovani G., Savio G., Refsgaard L., Olesen M.S.,
RA   Cortellini V., Dell'Era P.;
RT   "Generation of induced pluripotent stem cells (iPSC) from an atrial
RT   fibrillation patient carrying a KCNA5 p.D322H mutation.";
RL   Stem Cell Res. 24:29-32(2017).
//