ID   GM26069
AC   CVCL_D2Z9
DR   Coriell; GM26069
DR   Wikidata; Q127380904
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:2211; COL6A1; Unexplicit; Ex5-9del; Zygosity=Heterozygous (Coriell=GM26069).
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   9Y
CA   Transformed cell line
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
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