Cellosaurus cell line XP104BR (CVCL

Cellosaurus XP104BR (CVCL_ZU93)

Cross-references
Cell line name	XP104BR
Synonyms	Xeroderma Pigmentosum 104 BRighton
Accession	CVCL_ZU93
Resource Identification Initiative	To cite this cell line use: XP104BR (RRID:CVCL_ZU93)
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:3437; ERCC5; Simple; p.His46Metfs*5 (c.136delC); ClinVar=VCV001322832; Zygosity=Homozygous (PubMed=26884178).
Disease	Xeroderma pigmentosum, complementation group G (NCIt: C3969) Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	6Y
Category	Finite cell line
Publications	PubMed=26884178; DOI=10.1073/pnas.1519444113; PMCID=PMC4780618 Hiva Fassihi, Mieran Sethi, Heather Fawcett, Jonathan F. Wing, Natalie Chandler, Shehla Mohammed, Emma Craythorne, Ana Maria Susana Morley, Rong-Xuan Lim, Sally Turner, Tanya Henshaw ...Show all 25 authors... , Isabel Garrood, Paola Giunti, Tammy Hedderly, Adesoji Abiona, Harsha Naik, Gemma Harrop, David McGibbon, Nicolaas G.J. Jaspers, Elena Botta, Tiziana Nardo, Miria Stefanini, Antony R. Young, Robert Paul Edmond Sarkany, Alan Robert Lehmann; Show fewer authors 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; Q98135177
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	8