Cellosaurus cell line GM28234 (CVCL

Cell line name

GM28234

Accession

CVCL_B0IE

To cite this cell line use: GM28234 (RRID:CVCL_B0IE)

Comments

Population: Jewish; Syrian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.

Sequence variations

Mutation; HGNC; HGNC:2212; COL6A2; Simple; p.Arg468Ter (c.1402C>T); ClinVar=VCV000565700; Zygosity=Homozygous (Coriell=GM28234).
Mutation; HGNC; HGNC:2213; COL6A3; Simple; p.Arg625Thr (c.1874G>C); ClinVar=VCV000964423; Zygosity=Heterozygous (Coriell=GM28234).

Disease

Ullrich congenital muscular dystrophy (NCIt: C123438)
Congenital muscular dystrophy, Ullrich type (ORDO: Orphanet_75840)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_F1AE (GM29847)

Sex of cell

Female

Age at sampling