Cellosaurus cell line FB2303 (CVCL

Cross-references
Cell line name	FB2303
Accession	CVCL_A1TZ
Resource Identification Initiative	To cite this cell line use: FB2303 (RRID:CVCL_A1TZ)
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.Arg580Ter (c.1738C>T); ClinVar=VCV000007672; Zygosity=Heterozygous (PubMed=11779494). Mutation; HGNC; HGNC:6601; LIG4; Simple; p.Arg814Ter (c.2440C>T); ClinVar=VCV000007673; Zygosity=Heterozygous (PubMed=11779494).
Disease	LIG4 syndrome (NCIt: C122657) LIG4 syndrome (ORDO: Orphanet_99812)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Sex unspecified
Age at sampling	46Y
Category	Finite cell line
Publications	PubMed=11779494; DOI=10.1016/S1097-2765(01)00408-7 O'Driscoll M., Cerosaletti K.M., Girard P.-M., Dai Y., Stumm M., Kysela B., Hirsch B., Gennery A.R., Palmer S.E., Seidel J., Gatti R.A., Varon R., Oettinger M.A., Neitzel H., Jeggo P.A., Concannon P. DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. Mol. Cell 8:1175-1185(2001)
Encyclopedic resources	Wikidata; Q105506867
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	6