ID   GM23308
AC   CVCL_4T46
DR   Coriell; GM23308
DR   Wikidata; Q54852986
CC   Population: Korean.
CC   Sequence variation: Mutation; HGNC; HGNC:2212; COL6A2; Simple; c.856-3C>G (IVS6-3C>G); Zygosity=Heterozygous (Coriell=GM23308).
CC   Sequence variation: Mutation; HGNC; HGNC:2212; COL6A2; Simple; p.Lys796Ter (c.2386A>T); Zygosity=Heterozygous (Coriell=GM23308).
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_4T61 ! GM24232
SX   Female
AG   4Y
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 12
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