ID   GM24224
AC   CVCL_4T59
DR   Coriell; GM24224
DR   Wikidata; Q54853641
CC   Sequence variation: Mutation; HGNC; HGNC:2212; COL6A2; Simple; p.Arg784His (c.2351G>A); ClinVar=VCV000093938; Zygosity=Heterozygous (Coriell=GM24224).
CC   Sequence variation: Mutation; HGNC; HGNC:2212; COL6A2; Simple; c.1770+1delG; ClinVar=VCV000289581; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM24224).
CC   Discontinued: Coriell; GM24224; probable.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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_4T60 ! GM24231
SX   Male
AG   10Y
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 13
//