Cellosaurus cell line (CVCL

Cellosaurus (CVCL_D3PH)

Comments

From: Leibniz Research Institute for Environmental Medicine; Dusseldorf; Germany.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.

Sequence variations

Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Lys337Ter (c.1009A>T) (A1088T); ClinVar=VCV000550722; Zygosity=Heterozygous (PubMed=34271225).
Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Arg857Ter (c.2569C>T); ClinVar=VCV000553383; Zygosity=Heterozygous (PubMed=34271225).

Disease

Cockayne syndrome type B (NCIt: C135726)
Cockayne syndrome (ORDO: Orphanet_191)

Species of origin

Mus musculus (Mouse) (NCBI Taxonomy: 9606)

Hierarchy

Parent: CVCL_L471 (CS1AN)

Sex of cell

Female

Age at sampling