ID   GM27913
AC   CVCL_A9ZI
DR   Coriell; GM27913
DR   Wikidata; Q102113946
CC   Population: Jewish; Sephardic.
CC   Sequence variation: Mutation; HGNC; HGNC:2212; COL6A2; Simple; p.Arg468Ter (c.1402C>T); ClinVar=VCV000565700; Zygosity=Homozygous (Coriell=GM27913).
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   1Y6M
CA   Finite cell line
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 8
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