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 Khan S.G., Oh K.-S., Emmert S., Imoto K., Tamura D., DiGiovanna J.J., Shahlavi T., Armstrong N., Baker C.C., Neuburg M., Zalewski C., Brewer C.C., Wiggs E., Schiffmann R., Kraemer K.H. 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