ID   GM27131
AC   CVCL_A2PZ
DR   Coriell; GM27131
DR   Wikidata; Q105507097
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=GM27131).
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)
SX   Male
AG   29Y
CA   Transformed cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
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