ID   GM24343
AC   CVCL_AZ50
DR   Coriell; GM24343
DR   Wikidata; Q54853730
CC   Sequence variation: Mutation; HGNC; HGNC:2213; COL6A3; Simple; p.Asp563Gly (c.1688A>G); ClinVar=VCV000094910; Zygosity=Heterozygous (Coriell=GM24343).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C126688; Bethlem myopathy 1
DI   ORDO; Orphanet_610; Bethlem myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   58Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 11
//