Cellosaurus cell line XP6BI (CVCL

Cross-references
Cell line name	XP6BI
Synonyms	Xeroderma Pigmentosum 6 BIrmingham
Accession	CVCL_ZS59
Resource Identification Initiative	To cite this cell line use: XP6BI (RRID:CVCL_ZS59)
Comments	Population: Pakistani. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:12816; XPC; Simple; p.Arg415Ter (c.1243C>T) (C1348T); ClinVar=VCV000438623; Zygosity=Homozygous (PubMed=26884178).
Disease	Xeroderma pigmentosum, complementation group C (NCIt: C114770) Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Sex unspecified
Age at sampling	3Y
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; Q98136035
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7