ID   LUMCi062-B
AC   CVCL_F1WE
SY   LUMC0322iFOPA-05
DR   BioSamples; SAMEA117648522
DR   hPSCreg; LUMCi062-B
CC   From: Leiden University Medical Center; Leiden; Netherlands.
CC   Sequence variation: Mutation; HGNC; HGNC:1097; BRAF; Simple; p.Tyr633His (c.1897T>C); ClinVar=VCV001319116; Zygosity=Heterozygous (hPSCreg=LUMCi062-B).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C85202; Tricuspid valve atresia
DI   ORDO; Orphanet_1209; Tricuspid atresia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_F1WD ! LUMCi062-A
OI   CVCL_F1WF ! LUMCi062-C
SX   Male
CA   Induced pluripotent stem cell
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
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