ID   GM29484
AC   CVCL_F0ZF
SY   GM29484*B
DR   Coriell; GM29484
CC   Population: Caucasian; Danish/English/Polish.
CC   Sequence variation: Mutation; HGNC; HGNC:2211; COL6A1; Simple; p.Gly290Trp (c.868G>T); ClinVar=VCV000476441; Zygosity=Heterozygous (Coriell=GM29484).
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)
HI   CVCL_WP08 ! GM27108
SX   Female
AG   18Y
CA   Induced pluripotent stem cell
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
//