Cellosaurus cell line XP27TU (CVCL

Cross-references
Cell line name	XP27TU
Synonyms	Xeroderma Pigmentosum 27 TUnisia
Accession	CVCL_ZQ37
Resource Identification Initiative	To cite this cell line use: XP27TU (RRID:CVCL_ZQ37)
Comments	Population: Tunisian. 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; p.Arg228Ter (c.682C>T); ClinVar=VCV000000995; Zygosity=Homozygous (PubMed=8105686).
Disease	Xeroderma pigmentosum, complementation group A (NCIt: C3965) Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Sex unspecified
Age at sampling	15Y
Category	Finite cell line
Publications	PubMed=8105686; PMCID=PMC1682297 Nishigori C., Zghal M., Yagi T., Imamura S., Komoun M.R., Takebe H. High prevalence of the point mutation in exon 6 of the xeroderma pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosum group A patients in Tunisia. Am. J. Hum. Genet. 53:1001-1006(1993)
Encyclopedic resources	Wikidata; Q98135616
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7