ID   NUIGi015-C
AC   CVCL_WU36
SY   LQT014C12
DR   BioSamples; SAMEA9695522
DR   hPSCreg; NUIGi015-C
DR   Wikidata; Q98128159
CC   From: National University of Ireland Galway; Galway; Ireland.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:10593; SCN5A; Simple; p.Val411Met (c.1231G>A); ClinVar=VCV000067651; Zygosity=Unspecified (hPSCreg=NUIGi015-C).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C137959; Long QT syndrome 3
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_WU34 ! NUIGi015-A
OI   CVCL_WU35 ! NUIGi015-B
SX   Female
AG   40-44Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 19-12-24; Version: 8
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