Cellosaurus cell line XP34BE (CVCL

Cellosaurus XP34BE (CVCL_M321)

Cross-references
Cell line name	XP34BE
Synonyms	Xeroderma Pigmentosum 34 BEthesda; GM16955
Accession	CVCL_M321
Resource Identification Initiative	To cite this cell line use: XP34BE (RRID:CVCL_M321)
Comments	Population: Caucasian. Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Ile199Profs*52 (c.594_595insCCCCCCAG) (199insPP); Zygosity=Heterozygous (PubMed=18470933; PubMed=19934020). Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; Zygosity=Heterozygous (PubMed=18470933; PubMed=19934020).
Disease	Xeroderma pigmentosum, complementation group D (NCIt: C3967) Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_M320 ! XP34BE LCL
Sex of cell	Male
Age at sampling	23Y
Category	Finite cell line
Publications	PubMed=18470933; DOI=10.1002/humu.20768; PMCID=PMC3477783 Boyle J., Ueda T., Oh K.-S., Imoto K., Tamura D., Jagdeo J., Khan S.G., Nadem C., DiGiovanna J.J., Kraemer K.H. Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy. Hum. Mutat. 29:1194-1208(2008) PubMed=19934020; DOI=10.1084/jem.20091892; PMCID=PMC2806454 Ueda T., Compe E., Catez P., Kraemer K.H., Egly J.-M. Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients. J. Exp. Med. 206:3031-3046(2009)
Cell line collections (Providers)	Coriell; GM16955
Cell line databases/resources	CLO; CLO_0018076
Encyclopedic resources	Wikidata; Q54848814
Entry history
Entry creation	05-Nov-2013
Last entry update	19-Dec-2024
Version number	15