Cellosaurus cell line XP9MA (CVCL

Cellosaurus XP9MA (CVCL_ZN41)

Cross-references
Cell line name	XP9MA
Accession	CVCL_ZN41
Resource Identification Initiative	To cite this cell line use: XP9MA (RRID:CVCL_ZN41)
Comments	Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg683Gln (c.2048G>A); ClinVar=VCV000264679; Zygosity=Homozygous (PubMed=9238033).
Disease	Xeroderma pigmentosum, complementation group D (NCIt: C3967) Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	11Y
Category	Finite cell line
Publications	PubMed=7165374; DOI=10.1007/BF00403726 Elizabeth Fischer, Heinz Walter Thielmann, Bernhard Neundorfer, Friedrich Johannes Rentsch, Lutz Edler, Ernst Gustav Jung; Xeroderma pigmentosum patients from Germany: clinical symptoms and DNA repair characteristics. Arch. Dermatol. Res. 274:229-247(1982) PubMed=2054785 Heinz Walter Thielmann, Odilia Popanda, Lutz Edler, Ernst Gustav Jung; Clinical symptoms and DNA repair characteristics of xeroderma pigmentosum patients from Germany. Cancer Res. 51:3456-3470(1991) PubMed=9238033; DOI=10.1073/pnas.94.16.8658; PMCID=PMC23065 Elaine M. Taylor, Bernard C. Broughton, Elena Botta, Miria Stefanini, Alain Sarasin, Nicolaas G.J. Jaspers, Heather Fawcett, Susan A. Harcourt, Colin Francis Arlett, Alan R. Lehmann; Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. Proc. Natl. Acad. Sci. U.S.A. 94:8658-8663(1997)
Encyclopedic resources	Wikidata; Q98136253
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7