Cellosaurus cell line CS3AM (CVCL

Cross-references
Cell line name	CS3AM
Accession	CVCL_ZP09
Resource Identification Initiative	To cite this cell line use: CS3AM (RRID:CVCL_ZP09)
Comments	Population: Japanese. Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Arg77Ter (c.229C>T) (C308T); ClinVar=VCV000001708; Zygosity=Homozygous (PubMed=21143350).
Disease	UV-sensitive syndrome 1 (NCIt: C173106) UV-sensitive syndrome (ORDO: Orphanet_178338)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	13Y
Category	Finite cell line
Publications	PubMed=9777763; DOI=10.1016/S0190-9622(98)70005-2 Hiroko Miyauchi-Hashimoto, Tamiyo Akaeda, Toshiro Maihara, Mituo Ikenaga, Takeshi Horio; Cockayne syndrome without typical clinical manifestations including neurologic abnormalities. J. Am. Acad. Dermatol. 39:565-570(1998) PubMed=21143350; DOI=10.1111/j.1365-2443.2010.01467.x Katsuyoshi Horibata, Masafumi Saijo, Mui N. Bay, Li Lan, Isao Kuraoka, Philip J. Brooks, Masamitsu Honma, Takehiko Nohmi, Akira Yasui, Kiyoji Tanaka; Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex. Genes Cells 16:101-114(2011)
Encyclopedic resources	Wikidata; Q98125749
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7