Cellosaurus cell line CS20LO (CVCL

Cellosaurus CS20LO (CVCL_ZP67)

Cross-references
Cell line name	CS20LO
Synonyms	Cockayne Syndrome 20 LOndon
Accession	CVCL_ZP67
Resource Identification Initiative	To cite this cell line use: CS20LO (RRID:CVCL_ZP67)
Comments	Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:3433; ERCC1; Simple; p.Phe231Leu (c.693C>G); ClinVar=VCV000016778; Zygosity=Homozygous (PubMed=23623389).
Disease	Xeroderma pigmentosum-Cockayne syndrome complex (NCIt: C156031) Xeroderma pigmentosum-Cockayne syndrome complex (ORDO: Orphanet_220295)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	1-2Y
Category	Finite cell line
Publications	PubMed=23623389; DOI=10.1016/j.ajhg.2013.04.007; PMCID=PMC3644632 Kazuya Kashiyama, Yuka Nakazawa, Daniela T. Pilz, Chao-Wan Guo, Mayuko Shimada, Kensaku Sasaki, Heather Fawcett, Jonathan F. Wing, Susan O. Lewin, Lucinda Carr, Tao-Sheng Li ...Show all 26 authors... , Koh-ichiro Yoshiura, Atsushi Utani, Akiyoshi Hirano, Shunichi Yamashita, Danielle Greenblatt, Tiziana Nardo, Miria Stefanini, David McGibbon, Robert Paul Edmond Sarkany, Hiva Fassihi, Yoshito Takahashi, Yuji Nagayama, Norisato Mitsutake, Alan Robert Lehmann, Tomoo Ogi; Show fewer authors Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. Am. J. Hum. Genet. 92:807-819(2013)
Encyclopedic resources	Wikidata; Q98125734
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7