Cellosaurus cell line 411BR (CVCL

Cell line name

411BR

Synonyms

411 BRighton

Accession

CVCL_A1TX

To cite this cell line use: 411BR (RRID:CVCL_A1TX)

Comments

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

Sequence variations

Mutation; HGNC; HGNC:6601; LIG4; Simple; p.Ala3Val (c.8C>T); ClinVar=VCV000007676; Zygosity=Homozygous (PubMed=11779494).
Mutation; HGNC; HGNC:6601; LIG4; Simple; p.Thr9Ile (c.26C>T); ClinVar=VCV000007677; Zygosity=Homozygous (PubMed=11779494).
Mutation; HGNC; HGNC:6601; LIG4; Simple; p.Arg278His (c.833G>A); ClinVar=VCV000007675; Zygosity=Homozygous (PubMed=11779494).

Disease

LIG4 syndrome (NCIt: C122657)
LIG4 syndrome (ORDO: Orphanet_99812)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_A1TY (411BRneo)

Sex of cell

Sex unspecified

Age at sampling