ID   GM28234
AC   CVCL_B0IE
DR   Coriell; GM28234
DR   Wikidata; Q108820319
CC   Population: Jewish; Syrian.
CC   Sequence variation: Mutation; HGNC; HGNC:2212; COL6A2; Simple; p.Arg468Ter (c.1402C>T); ClinVar=VCV000565700; Zygosity=Homozygous (Coriell=GM28234).
CC   Sequence variation: Mutation; HGNC; HGNC:2212; COL6A2; Simple; p.Arg625Thr (c.1874G>C); Zygosity=Heterozygous (Coriell=GM28234).
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   Female
AG   2Y
CA   Finite cell line
DT   Created: 23-09-21; Last updated: 19-12-24; Version: 7
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