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 Yuka Nakazawa, Kensaku Sasaki, Norisato Mitsutake, Michiko Matsuse, Mayuko Shimada, Tiziana Nardo, Yoshito Takahashi, Kaname Ohyama, Kosei Ito, Hiroyuki Mishima, Masayo Nomura ...Show all 24 authors... , Akira Kinoshita, Shinji Ono, Katsuya Takenaka, Ritsuko Masuyama, Takashi Kudo, Hanoch Slor, Atsushi Utani, Satoshi Tateishi, Shunichi Yamashita, Miria Stefanini, Alan Robert Lehmann, Koh-ichiro Yoshiura, Tomoo Ogi; Show fewer authors 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