Cellosaurus cell line XP27OS (CVCL

Cellosaurus XP27OS (CVCL_9S69)

Cross-references
Cell line name	XP27OS
Synonyms	Xeroderma Pigmentosum 27 OSaka
Accession	CVCL_9S69
Resource Identification Initiative	To cite this cell line use: XP27OS (RRID:CVCL_9S69)
Comments	Population: Japanese. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:12814; XPA; Simple; c.390-1G>C (IVS3-1G>C); ClinVar=VCV000264684; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=1372102; PubMed=1702221). Mutation; HGNC; HGNC:12814; XPA; Simple; p.Arg228Ter (c.682C>T); ClinVar=VCV000000995; Zygosity=Heterozygous (PubMed=1372102; PubMed=1702221).
Disease	Xeroderma pigmentosum, complementation group A (NCIt: C3965) Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category	Finite cell line
Publications	PubMed=1702221; DOI=10.1073/pnas.87.24.9908; PMCID=PMC55283 Ichiro Satokata, Kiyoji Tanaka, Naoyuki Miura, Iwai Miyamoto, Yoshiaki Satoh, Seiji Kondo, Yoshio Okada; Characterization of a splicing mutation in group A xeroderma pigmentosum. Proc. Natl. Acad. Sci. U.S.A. 87:9908-9912(1990) PubMed=1372102; DOI=10.1016/0921-8777(92)90080-M Ichiro Satokata, Kiyoji Tanaka, Naoyuki Miura, Masashi Narita, Takashi Mimaki, Yoshiaki Satoh, Seiji Kondo, Yoshio Okada; Three nonsense mutations responsible for group A xeroderma pigmentosum. Mutat. Res. 273:193-202(1992)
Cell line collections (Providers)	JCRB; KURB1335
Encyclopedic resources	Wikidata; Q54994912
Entry history
Entry creation	23-Feb-2016
Last entry update	19-Dec-2024
Version number	10