Cellosaurus cell line LB2304 (CVCL

Cross-references
Cell line name	LB2304
Synonyms	LB 2304
Accession	CVCL_A1UA
Resource Identification Initiative	To cite this cell line use: LB2304 (RRID:CVCL_A1UA)
Comments	Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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	48Y
Category	Transformed 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; Q105509857
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	5