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 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) PubMed=19896956; DOI=10.1016/j.mrfmmm.2009.10.013 Wilson P.F., Nham P.B., Urbin S.S., Hinz J.M., Jones I.M., Thompson L.H. 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