ID   GM27199
AC   CVCL_UT82
DR   Coriell; GM27199
DR   Wikidata; Q93933068
CC   Sequence variation: Mutation; HGNC; HGNC:2211; COL6A1; Simple; p.Gly281Arg (c.841G>A); ClinVar=VCV000017182; Zygosity=Heterozygous (Coriell=GM27199).
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   49Y
CA   Transformed cell line
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 9
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