ID IBBISTi010-A AC CVCL_E4D2 SY 4_H17 DR BioSamples; SAMEA115861649 DR hPSCreg; IBBISTi010-A CC From: Simao Jose Teixeira da Rocha; Porto Salvo; Portugal. CC Sequence variation: Mutation; HGNC; HGNC:7551; MYBPC3; Simple; c.1224-52G>A; ClinVar=VCV000188544; Zygosity=Heterozygous (hPSCreg; IBBISTi010-A). CC Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178. DI NCIt; C133725; Familial hypertrophic cardiomyopathy type 4 DI ORDO; Orphanet_99739; Rare familial disorder with hypertrophic cardiomyopathy OX NCBI_TaxID=9606; ! Homo sapiens (Human) SX Female CA Induced pluripotent stem cell DT Created: 19-12-24; Last updated: 19-12-24; Version: 1 //