ID   GM23681
AC   CVCL_4T49
DR   Coriell; GM23681
DR   Wikidata; Q54853222
CC   Sequence variation: Mutation; HGNC; HGNC:2212; COL6A2; Simple; p.Gly301Ser (c.901G>A); ClinVar=VCV000283758; Zygosity=Heterozygous (Coriell=GM23681).
CC   Sequence variation: Mutation; HGNC; HGNC:2212; COL6A2; Simple; p.Pro518Ser (c.1552C>T); ClinVar=VCV000093911; Zygosity=Heterozygous (Coriell=GM23681).
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   Male
AG   16Y
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 13
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