Cellosaurus cell line XP121BR (CVCL

Cross-references
Cell line name	XP121BR
Synonyms	Xeroderma Pigmentosum 121 BRighton
Accession	CVCL_ZR87
Resource Identification Initiative	To cite this cell line use: XP121BR (RRID:CVCL_ZR87)
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: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	Female
Age at sampling	25Y
Category	Finite cell line
Publications	PubMed=26743599; DOI=10.1016/j.jid.2015.12.031 Mieran Sethi, Shaheen Haque, Heather Fawcett, Jonathan F. Wing, Natalie Chandler, Shehla Mohammed, Ian Martin Frayling, Paul G. Norris, David McGibbon, Antony R. Young, Robert Paul Edmond Sarkany ...Show all 13 authors... , Alan R. Lehmann, Hiva Fassihi; Show fewer authors 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; Q98135257
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7