Cellosaurus cell line XP1UTSW (CVCL

Cellosaurus XP1UTSW (CVCL_ZP83)

Cross-references
Cell line name	XP1UTSW
Synonyms	S05-5125
Accession	CVCL_ZP83
Resource Identification Initiative	To cite this cell line use: XP1UTSW (RRID:CVCL_ZP83)
Comments	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; c.622-2A>C (IVS5.1-2A>C); ClinVar=VCV000190209; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=17079196; PubMed=17084680). Mutation; HGNC; HGNC:12816; XPC; Simple; p.Gly810Alafs*9 (c.2429_2441del13); Zygosity=Heterozygous (PubMed=17079196; PubMed=17084680).
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	Female
Age at sampling	19Y
Category	Finite cell line
Publications	PubMed=17079196; DOI=10.1016/j.dnarep.2006.09.008 Rivera-Begeman A., McDaniel L.D., Schultz R.A., Friedberg E.C. A novel XPC pathogenic variant detected in archival material from a patient diagnosed with xeroderma pigmentosum: a case report and review of the genetic variants reported in XPC. DNA Repair 6:100-114(2007) PubMed=17084680; DOI=10.1016/j.dnarep.2006.09.009 McDaniel L.D., Rivera-Begeman A., Doughty A.T.B., Schultz R.A., Friedberg E.C. Validation of XP-C pathogenic variations in archival material from a live XP patient. DNA Repair 6:115-120(2007)
Encyclopedic resources	Wikidata; Q98135496
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	8