ID   GM29847
AC   CVCL_F1AE
SY   GM29847*B
DR   Coriell; GM29847
CC   Population: Jewish; Syrian.
CC   Sequence variation: Mutation; HGNC; HGNC:2212; COL6A2; Simple; p.Arg468Ter (c.1402C>T); ClinVar=VCV000565700; Zygosity=Homozygous (Coriell=GM29847).
CC   Sequence variation: Mutation; HGNC; HGNC:2213; COL6A3; Simple; p.Arg625Thr (c.1874G>C); ClinVar=VCV000964423; Zygosity=Heterozygous (Coriell=GM29847).
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)
HI   CVCL_B0IE ! GM28234
SX   Female
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
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