ID   GM27123
AC   CVCL_A2PX
DR   Coriell; GM27123
DR   Wikidata; Q105507089
CC   Population: Caucasian; Swiss.
CC   Sequence variation: Mutation; HGNC; HGNC:2211; COL6A1; Simple; c.1003-1G>A; ClinVar=VCV000286179; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM27123).
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   41Y
CA   Transformed cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
//