ID   GM24415
AC   CVCL_4T74
DR   Coriell; GM24415
DR   Wikidata; Q54853756
CC   Sequence variation: Mutation; HGNC; HGNC:2211; COL6A1; Simple; p.Gly311Asp (c.932G>A); ClinVar=VCV000289651; Zygosity=Heterozygous (Coriell=GM24415).
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   13Y
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 12
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