Cellosaurus cell line XP1NO (CVCL

Cross-references
Cell line name	XP1NO
Accession	CVCL_ZV06
Resource Identification Initiative	To cite this cell line use: XP1NO (RRID:CVCL_ZV06)
Comments	Population: Caucasian. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:9181; POLH; Simple; p.Ser51Glufs*3 (c.149dupT); ClinVar=VCV000631984; Zygosity=Homozygous (PubMed=26884178).
Disease	Xeroderma pigmentosum variant type (NCIt: C141367) Xeroderma pigmentosum variant (ORDO: Orphanet_90342)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Sex unspecified
Age at sampling	20Y
Category	Finite cell line
Publications	PubMed=26884178; DOI=10.1073/pnas.1519444113; PMCID=PMC4780618 Fassihi H., Sethi M., Fawcett H., Wing J.F., Chandler N., Mohammed S., Craythorne E., Morley A.M.S., Lim R.-X., Turner S., Henshaw T., Garrood I., Giunti P., Hedderly T., Abiona A., Naik H., Harrop G., McGibbon D., Jaspers N.G.J., Botta E., Nardo T., Stefanini M., Young A.R., Sarkany R.P.E., Lehmann A.R. Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. Proc. Natl. Acad. Sci. U.S.A. 113:E1236-E1245(2016)
Encyclopedic resources	Wikidata; Q98135471
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7