ID   IBBISTi013-A
AC   CVCL_E4D5
SY   4_H22
DR   BioSamples; SAMEA115877053
DR   hPSCreg; IBBISTi013-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; IBBISTi013-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
//