Cellosaurus cell line XP329BE (CVCL

Cross-references
Cell line name	XP329BE
Synonyms	Xeroderma Pigmentosum 329 BEthesda; JA1356
Accession	CVCL_ZP74
Resource Identification Initiative	To cite this cell line use: XP329BE (RRID:CVCL_ZP74)
Comments	Population: Caucasian. 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; p.Met1Arg (c.2T>G); ClinVar=VCV001066146; Zygosity=Homozygous (PubMed=18955168).
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	Male
Age at sampling	13Y
Category	Finite cell line
Publications	PubMed=18955168; DOI=10.1016/j.dnarep.2008.09.007; PMCID=PMC2684809 Sikandar G. Khan, Kyu-Seon Oh, Steffen Emmert, Kyoko Imoto, Deborah Tamura, John Joseph DiGiovanna, Tala Shahlavi, Najealicka Armstrong, Carl C. Baker, Marcy Neuburg, Christopher Zalewski ...Show all 15 authors... , Carmen C. Brewer, Edythe Wiggs, Raphael Schiffmann, Kenneth H. Kraemer; Show fewer authors XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms. DNA Repair 8:114-125(2009)
Encyclopedic resources	Wikidata; Q98135690
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	8