ID   INSRMi015-A
AC   CVCL_C9DU
SY   C1-P018
DR   BioSamples; SAMEA114268634
DR   hPSCreg; INSRMi015-A
DR   Wikidata; Q123032714
RX   PubMed=37660555;
CC   From: INSERM; Paris; France.
CC   Sequence variation: Mutation; HGNC; HGNC:6251; KCNH2; Simple; p.Leu127Phe (c.379C>T); ClinVar=VCV000200278; Zygosity=Heterozygous (PubMed=37660555).
CC   Omics: Transcriptomics; RNAseq.
CC   Omics: Variations; Array-based CGH.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=37660555
ST   Amelogenin: X,Y
ST   CSF1PO: 10,11
ST   D13S317: 12
ST   D16S539: 10,11
ST   D18S51: 12,15
ST   D19S433: 14,15.2
ST   D21S11: 30,31
ST   D2S1338: 20
ST   D3S1358: 15,16
ST   D5S818: 11,12
ST   D7S820: 12,13
ST   D8S1179: 15,16
ST   FGA: 20,23
ST   Penta D: 9,11
ST   Penta E: 5,12
ST   TH01: 6,7
ST   TPOX: 8,9
ST   vWA: 14,18
DI   NCIt; C137957; Long QT syndrome 2
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   19Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 10-04-25; Version: 4
//
RX   PubMed=37660555; DOI=10.1016/j.scr.2023.103192;
RA   Goual L., Bounasri E., Vincenti M., Amedro P., Desprat R., Bernex F.,
RA   Lemaitre J.-M., Pasquie J.-L., Lacampagne A., Thireau J., Meli A.C.;
RT   "Generation of patient-specific induced pluripotent stem cell lines
RT   with type 2 long QT syndrome and the KCNH2 c.379C > T pathogenic
RT   variant.";
RL   Stem Cell Res. 72:103192-103192(2023).
//