ID   GM24384
AC   CVCL_4T71
DR   Coriell; GM24384
DR   Wikidata; Q54853745
CC   Sequence variation: Mutation; HGNC; HGNC:2211; COL6A1; Simple; p.Gly284Arg (c.850G>A); ClinVar=VCV000017180; Zygosity=Heterozygous (Coriell=GM24384).
CC   Sequence variation: Mutation; HGNC; HGNC:2211; COL6A1; Simple; c.1182+3G>A; ClinVar=VCV000162526; Zygosity=Heterozygous (Coriell=GM24384).
CC   Sequence variation: Mutation; HGNC; HGNC:2211; COL6A1; Simple; c.1814-6C>G; ClinVar=VCV000093830; Zygosity=Heterozygous (Coriell=GM24384).
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)
SX   Male
AG   8Y
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 12
//