ID   GM24391
AC   CVCL_4T72
DR   Coriell; GM24391
DR   Wikidata; Q54853748
CC   Sequence variation: Mutation; HGNC; HGNC:2213; COL6A3; Simple; p.Gln1682Serfs*12 (c.5044delC); Zygosity=Heterozygous (Coriell=GM24391).
CC   Sequence variation: Mutation; HGNC; HGNC:2213; COL6A3; Simple; p.Gly2356Ter (c.7066G>T); Zygosity=Heterozygous (Coriell=GM24391).
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)
SX   Female
AG   10Y
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 12
//