Cellosaurus cell line GM25393 (CVCL

Cell line name

GM25393

Accession

CVCL_BW56

To cite this cell line use: GM25393 (RRID:CVCL_BW56)

Comments

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

Sequence variations

Mutation; HGNC; HGNC:1940; CHM; Simple; c.189+1G>T (IVS3+1G>T); Zygosity=Hemizygous; Note=Splice donor mutation (Coriell=GM25393).

Disease

Choroideremia (NCIt: C34469)
Choroideremia (ORDO: Orphanet_180)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_VI87 (GM26650)

Originate from same individual

CVCL_BW55 ! GM25392

Sex of cell

Male

Age at sampling

57Y