ID   CIAUi002-C
AC   CVCL_C9LV
SY   UBC3 M1
DR   BioSamples; SAMEA112941291
DR   hPSCreg; CIAUi002-C
DR   Wikidata; Q123030933
RX   PubMed=37385135;
CC   From: Molecular Cardiology, Centenary Institute of Cancer Medicine and Cell Biology; Camperdown; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 10593; SCN5A; Simple; c.392+3A>G; ClinVar=VCV000918002; Zygosity=Heterozygous (PubMed=37385135).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C126651; Progressive familial heart block, type Ia
DI   ORDO; Orphanet_871; Familial progressive cardiac conduction defect
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C9LT ! CIAUi002-A
OI   CVCL_C9LU ! CIAUi002-B
SX   Female
AG   30Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37385135; DOI=10.1016/j.scr.2023.103153;
RA   Li S., Fraser S.T., Ranpura G., Lim S., Singer E.S., Parker J.D.K.,
RA   Crowe J., Bagnall R.D., Laksman Z.W., Semsarian C.;
RT   "Generation of an induced pluripotent stem cell line from a patient
RT   with conduction disease and recurrent ventricular fibrillation with a
RT   sodium voltage-gated channel alpha subunit 5 (SCN5A) gene c.392+3A>G
RT   splice-site variant.";
RL   Stem Cell Res. 71:103153-103153(2023).
//