ID   INSRMi014-A
AC   CVCL_C9DT
SY   C1-P017
DR   BioSamples; SAMEA114277528
DR   hPSCreg; INSRMi014-A
DR   Wikidata; Q123032713
RX   PubMed=37660555;
CC   From: INSERM; Paris; France.
CC   Sequence variation: Mutation; HGNC; 6251; KCNH2; Simple; p.Leu127Phe (c.379C>T); ClinVar=VCV000200278; Zygosity=Homozygous (PubMed=37660555).
CC   Sequence variation: Mutation; HGNC; 6251; KCNH2; Simple; p.Arg892Cys (c.2674C>T); ClinVar=VCV000191470; Zygosity=Homozygous (PubMed=37660555).
CC   Omics: Array-based CGH.
CC   Omics: Transcriptome analysis by RNAseq.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=37660555
ST   Amelogenin: X
ST   CSF1PO: 10,13
ST   D13S317: 11
ST   D16S539: 11
ST   D18S51: 18
ST   D19S433: 12,14
ST   D21S11: 30.2,31.2
ST   D2S1338: 17,24
ST   D3S1358: 17
ST   D5S818: 12
ST   D7S820: 9,12
ST   D8S1179: 14,15
ST   FGA: 20
ST   Penta D: 12
ST   Penta E: 11,15
ST   TH01: 6,9
ST   TPOX: 8,11
ST   vWA: 14,17
DI   NCIt; C137957; Long QT syndrome 2
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   8Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
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).
//