ID   GM29388
AC   CVCL_F0ZA
SY   GM29388*B
DR   Coriell; GM29388
CC   Population: Caucasian; German/Irish.
CC   Sequence variation: Mutation; HGNC; HGNC:7551; MYBPC3; Simple; p.Cys528Thrfs*4 (c.1577_1580dupCACT); ClinVar=VCV000181148; Zygosity=Heterozygous (Coriell=GM29388).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
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)
HI   CVCL_A2PZ ! GM27131
SX   Male
AG   29Y
CA   Induced pluripotent stem cell
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
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