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Cellosaurus XP1NE LCL (CVCL_ZS45)

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Cell line name XP1NE LCL
Synonyms Xeroderma Pigmentosum 1 NEwscastle LCL; LB 309; LB309; 309
Accession CVCL_ZS45
Resource Identification Initiative To cite this cell line use: XP1NE LCL (RRID:CVCL_ZS45)
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.Gly47Arg (c.139G>A); ClinVar=VCV001176084; Zygosity=Heterozygous (from autologous cell line XP1NE).
  • Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Leu461Val (c.1381C>G); ClinVar=VCV000016779; Zygosity=Heterozygous (from autologous cell line XP1NE).
  • Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Ala717Gly (c.2150C>G) (p.Val716_Arg730del); ClinVar=VCV000134102; Zygosity=Heterozygous; Note=Creates a cryptic donor splice site (from autologous cell line XP1NE).
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_J997 ! XP1NE
Sex of cell Female
Age at sampling 22Y
Category Transformed cell line
Publications

PubMed=1372096; DOI=10.1016/0921-8777(92)90074-d
Colin Francis Arlett, Susan A. Harcourt, Jane Cole, Michael H.L. Green, Alexander Vincent Anstey;
A comparison of the response of unstimulated and stimulated T-lymphocytes and fibroblasts from normal, xeroderma pigmentosum and trichothiodystrophy donors to the lethal action of UV-C.
Mutat. Res. 273:127-135(1992)

Cross-references
Encyclopedic resources Wikidata; Q98135465
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number10