ID   FAHXMUi001-A
AC   CVCL_D6IA
SY   LQTS-iPSCs clone-02
DR   hPSCreg; FAHXMUi001-A
DR   Wikidata; Q127380841
RX   PubMed=36010573;
CC   From: The First Affiliated Hospital of Xinjiang Medical University; Xinjiang; China.
CC   Sequence variation: Mutation; HGNC; 6294; KCNQ1; Simple; p.Gly219Glu (c.656G>A); ClinVar=VCV003003778; Zygosity=Heterozygous (PubMed=36010573).
CC   Sequence variation: Mutation; HGNC; 17993; TRPM4; Simple; p.Thr160Met (c.479C>T); ClinVar=VCV001743158; Zygosity=Heterozygous (PubMed=36010573).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=36010573
ST   Amelogenin: X
ST   CSF1PO: 9,11
ST   D13S317: 12,13
ST   D16S539: 11,12
ST   D18S51: 14,21
ST   D19S433: 13,14
ST   D1S1656: 11,17
ST   D21S11: 30,31
ST   D2S1338: 18,23
ST   D3S1358: 15,18
ST   D5S818: 10,11
ST   D6S1043: 18,20
ST   D7S820: 11
ST   D8S1179: 13,16
ST   FGA: 23,24
ST   Penta D: 9,11
ST   Penta E: 11,12
ST   TH01: 6,7
ST   TPOX: 8,9
ST   vWA: 17,18
DI   NCIt; C85049; Long QT syndrome 1
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
//
RX   PubMed=36010573; DOI=10.3390/cells11162495; PMCID=PMC9406448;
RA   Wang F.-F., Han Y.-F., Sang W.-Y., Wang L., Liang X.-Y., Wang L.,
RA   Xing Q., Guo Y.-K., Zhang J.-H., Zhang L., ZuKela T.-H., Xiaokereti J.,
RA   Lu Y.-M., Zhou X.-H., Tang B.-P., Li Y.-D.;
RT   "In vitro drug screening using iPSC-derived cardiomyocytes of a long
RT   QT-syndrome patient carrying KCNQ1 & TRPM4 dual mutation: an
RT   experimental personalized treatment.";
RL   Cells 11:2495.1-2495.17(2022).
//