ID   GM26147
AC   CVCL_A2VS
DR   Coriell; GM26147
DR   Wikidata; Q105507017
CC   Population: Caucasian; British/Polish.
CC   Sequence variation: Mutation; HGNC; HGNC:3754; FLNA; Simple; p.Pro680Leu (c.2039C>T); Zygosity=Hemizygous (Coriell=GM26147).
CC   Sequence variation: Mutation; HGNC; HGNC:7577; MYH7; Simple; p.Val1360Ile (c.4078G>A); ClinVar=VCV000042991; Zygosity=Heterozygous (Coriell=GM26147).
CC   Sequence variation: Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Gln1589Pro (c.4766A>C); ClinVar=VCV000544377; Zygosity=Heterozygous (Coriell=GM26147).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   33Y
CA   Transformed cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
//