ID   GM27108
AC   CVCL_WP08
DR   Coriell; GM27108
DR   Wikidata; Q93933011
CC   Sequence variation: Mutation; HGNC; HGNC:2211; COL6A1; Simple; p.Gly290Trp (c.868G>T); ClinVar=VCV000476441; Zygosity=Heterozygous (Coriell=GM27108).
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   Female
AG   18Y
CA   Transformed cell line
DT   Created: 05-07-19; Last updated: 19-12-24; Version: 9
//