Cellosaurus cell line XP34BE LCL (CVCL

Cross-references
Cell line name	XP34BE LCL
Synonyms	Xeroderma Pigmentosum 34 BEthesda LCL; GM16954
Accession	CVCL_M320
Resource Identification Initiative	To cite this cell line use: XP34BE LCL (RRID:CVCL_M320)
Comments	Population: Caucasian. Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Ile199Profs*52 (c.594_595insCCCCCCAG) (199insPP); Zygosity=Heterozygous (from autologous cell line XP34BE). Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; Zygosity=Heterozygous (from autologous cell line XP34BE).
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_M321 ! XP34BE
Sex of cell	Male
Age at sampling	23Y
Category	Transformed cell line
Cell line collections (Providers)	Coriell; GM16954
Cell line databases/resources	CLO; CLO_0018115
Encyclopedic resources	Wikidata; Q54848813
Entry history
Entry creation	05-Nov-2013
Last entry update	19-Dec-2024
Version number	17