ID   GM24239
AC   CVCL_4T65
DR   Coriell; GM24239
DR   Wikidata; Q54853652
CC   Sequence variation: Mutation; HGNC; HGNC:2213; COL6A3; Simple; c.6310-2A>G; ClinVar=VCV000571080; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM24239).
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: 14
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