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 Mark O'Driscoll, Karen M. Cerosaletti, Pierre-Marie Girard, Yan Dai, Markus Stumm, Boris Kysela, Betsy Hirsch, Andrew R. Gennery, Susan E. Palmer, Jorg Seidel, Richard A. Gatti ...Show all 16 authors... , Raymonda Varon, Marjorie Ann Oettinger, Heidemarie Neitzel, Penelope Ann Jeggo, Patrick Concannon; Show fewer authors 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