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Cellosaurus GM27131 (CVCL_A2PZ)

[Text version]
Cell line name GM27131
Accession CVCL_A2PZ
Resource Identification Initiative To cite this cell line use: GM27131 (RRID:CVCL_A2PZ)
Comments Population: Caucasian; German/Irish.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:7551; MYBPC3; Simple; p.Cys528Thrfs*4 (c.1577_1580dupCACT); ClinVar=VCV000181148; Zygosity=Heterozygous (Coriell=GM27131).
Disease Familial hypertrophic cardiomyopathy type 4 (NCIt: C133725)
Rare familial disorder with hypertrophic cardiomyopathy (ORDO: Orphanet_99739)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 29Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27131
Encyclopedic resources Wikidata; Q105507097
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6