Cellosaurus cell line GM17523 (CVCL

Cellosaurus GM17523 (CVCL_1K21)

Cross-references
Cell line name	GM17523
Synonyms	99P0149
Accession	CVCL_1K21
Resource Identification Initiative	To cite this cell line use: GM17523 (RRID:CVCL_1K21)
Comments	Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:6601; LIG4; Simple; p.Gly469Glu (c.1406G>A); ClinVar=VCV000007674; 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	Female
Age at sampling	10Y
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) PubMed=19896956; DOI=10.1016/j.mrfmmm.2009.10.013 Paul F. Wilson, Peter B. Nham, Salustra S. Urbin, John M. Hinz, Irene M. Jones, Lawrence H. Thompson; Inter-individual variation in DNA double-strand break repair in human fibroblasts before and after exposure to low doses of ionizing radiation. Mutat. Res. 683:91-97(2010)
Cell line collections (Providers)	Coriell; GM17523
Cell line databases/resources	CLO; CLO_0013052
Encyclopedic resources	Wikidata; Q54848959
Entry history
Entry creation	08-Jul-2015
Last entry update	19-Dec-2024
Version number	14