ID   GM24231
AC   CVCL_4T60
DR   Coriell; GM24231
DR   Wikidata; Q54853644
CC   Sequence variation: Mutation; HGNC; HGNC:2212; COL6A2; Simple; c.1770+1delG; ClinVar=VCV000289581; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM24231).
CC   Sequence variation: Mutation; HGNC; HGNC:2212; COL6A2; Simple; p.Arg784His (c.2351G>A); ClinVar=VCV000093938; Zygosity=Heterozygous (Coriell=GM24231).
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_4T59 ! GM24224
SX   Male
AG   10Y
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 14
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