ID   LUMCi004-A-5
AC   CVCL_E4H6
SY   LU99_SCN5A-R282H_cis
DR   BioSamples; SAMEA116100393
DR   hPSCreg; LUMCi004-A-5
CC   From: Leiden University Medical Center; Leiden; Netherlands.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:10593; SCN5A; Simple_edited; p.Arg282His (c.845G>A); ClinVar=VCV000068048; Zygosity=Unspecified; Note=By CRISPR/Cas9 (hPSCreg=LUMCi004-A-5).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C142891; Brugada syndrome
DI   ORDO; Orphanet_130; Brugada syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_UK77 ! LUMCi004-A
SX   Female
AG   29Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//