Cellosaurus cell line CS5IAF (CVCL

Cross-references
Cell line name	CS5IAF
Accession	CVCL_ZT19
Resource Identification Initiative	To cite this cell line use: CS5IAF (RRID:CVCL_ZT19)
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=29572252).
Disease	Cockayne syndrome type A (NCIt: C135725) Cockayne syndrome (ORDO: Orphanet_191)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	4Y
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=29572252; DOI=10.1136/jmedgenet-2017-104877 Calmels N., Botta E., Jia N., Fawcett H., Nardo T., Nakazawa Y., Lanzafame M., Moriwaki S., Sugita K., Kubota M., Obringer C., Spitz M.-A., Stefanini M., Laugel V., Orioli D., Ogi T., Lehmann A.R. Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. J. Med. Genet. 55:329-343(2018)
Encyclopedic resources	Wikidata; Q98125761
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7