Cellosaurus cell line XP49BR (CVCL

Cross-references
Cell line name	XP49BR
Synonyms	Xeroderma Pigmentosum 49 BRighton
Accession	CVCL_ZR90
Resource Identification Initiative	To cite this cell line use: XP49BR (RRID:CVCL_ZR90)
Comments	Population: Afghan. 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.555+8A>G; ClinVar=VCV000852033; Zygosity=Homozygous (PubMed=26743599).
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	Male
Age at sampling	38Y
Category	Finite cell line
Publications	PubMed=26743599; DOI=10.1016/j.jid.2015.12.031 Sethi M., Haque S., Fawcett H., Wing J.F., Chandler N., Mohammed S., Frayling I.M., Norris P.G., McGibbon D., Young A.R., Sarkany R.P.E., Lehmann A.R., Fassihi H. A distinct genotype of XP complementation group A: surprisingly mild phenotype highly prevalent in Northern India/Pakistan/Afghanistan. J. Invest. Dermatol. 136:869-872(2016)
Encyclopedic resources	Wikidata; Q98135853
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7