ID   GM24259
AC   CVCL_4T70
DR   Coriell; GM24259
DR   Wikidata; Q54853672
CC   Sequence variation: Mutation; HGNC; HGNC:2211; COL6A1; Simple; c.1002+1G>A; ClinVar=VCV000287971; Zygosity=Unspecified; Note=Splice donor mutation (Coriell=GM24259).
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   16Y
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 12
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