Cellosaurus cell line UVSS24TA (CVCL

Cross-references
Cell line name	UVSS24TA
Accession	CVCL_ZP13
Resource Identification Initiative	To cite this cell line use: UVSS24TA (RRID:CVCL_ZP13)
Comments	Population: Israeli. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:29304; UVSSA; Simple; p.Ile31Phefs*9 (c.87delG); ClinVar=VCV000031570; Zygosity=Homozygous (PubMed=22466610).
Disease	UV-sensitive syndrome 3 (NCIt: C173107) UV-sensitive syndrome (ORDO: Orphanet_178338)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category	Finite cell line
Publications	PubMed=22466610; DOI=10.1038/ng.2229 Nakazawa Y., Sasaki K., Mitsutake N., Matsuse M., Shimada M., Nardo T., Takahashi Y., Ohyama K., Ito K., Mishima H., Nomura M., Kinoshita A., Ono S., Takenaka K., Masuyama R., Kudo T., Slor H., Utani A., Tateishi S., Yamashita S., Stefanini M., Lehmann A.R., Yoshiura K.-i., Ogi T. Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. Nat. Genet. 44:586-592(2012)
Encyclopedic resources	Wikidata; Q98134438
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7