ID   CIAUi002-A
AC   CVCL_C9LT
SY   UBC3-A2
DR   hPSCreg; CIAUi002-A
DR   Wikidata; Q123030931
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 (from autologous cell line CIAUi002-C).
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_C9LU ! CIAUi002-B
OI   CVCL_C9LV ! CIAUi002-C
SX   Female
AG   30Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
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