ID   GM24232
AC   CVCL_4T61
DR   Coriell; GM24232
DR   Wikidata; Q54853645
CC   Population: Korean.
CC   Sequence variation: Mutation; HGNC; HGNC:2212; COL6A2; Simple; c.856-3C>G (IVS6-3C>G); Zygosity=Heterozygous (Coriell=GM24232).
CC   Sequence variation: Mutation; HGNC; HGNC:2212; COL6A2; Simple; p.Lys796Ter (c.2386A>T); Zygosity=Heterozygous (Coriell=GM24232).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C123438; Ullrich congenital muscular dystrophy
DI   ORDO; Orphanet_75840; Congenital muscular dystrophy, Ullrich type
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_4T46 ! GM23308
SX   Female
AG   5Y
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 13
//