Cellosaurus cell line CS2IAF (CVCL

Cross-references
Cell line name	CS2IAF
Accession	CVCL_ZT16
Resource Identification Initiative	To cite this cell line use: CS2IAF (RRID:CVCL_ZT16)
Comments	Population: Arab. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:3439; ERCC8; Simple; p.Tyr322Ter (c.966C>A); ClinVar=VCV000001715; Zygosity=Homozygous (PubMed=9338586).
Disease	Cockayne syndrome type A (NCIt: C135725) Cockayne syndrome (ORDO: Orphanet_191)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Sex unspecified
Age at sampling	5Y
Category	Finite cell line
Publications	PubMed=8834235; DOI=10.1007/BF02267059 Stefanini M., Fawcett H., Botta E., Nardo T., Lehmann A.R. Genetic analysis of twenty-two patients with Cockayne syndrome. Hum. Genet. 97:418-423(1996) PubMed=9338586; DOI=10.1002/(SICI)1098-1004(1997)10:4<317::AID-HUMU8>3.0.CO;2-D McDaniel L.D., Legerski R.J., Lehmann A.R., Friedberg E.C., Schultz R.A. Confirmation of homozygosity for a single nucleotide substitution mutation in a Cockayne syndrome patient using monoallelic mutation analysis in somatic cell hybrids. Hum. Mutat. 10:317-321(1997)
Encyclopedic resources	Wikidata; Q98125742
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7