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Cellosaurus XP3RO LCL (CVCL_F497)

[Text version]
Cell line name XP3RO LCL
Synonyms Xeroderma Pigmentosum 3 ROtterdam LCL; GM02450; GM2450; GM 2450; GM2450D; GM02450E; GM02450F
Accession CVCL_F497
Resource Identification Initiative To cite this cell line use: XP3RO LCL (RRID:CVCL_F497)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 2718; DDB2; Simple; p.Arg273His (c.818G>A); ClinVar=VCV000008788; Zygosity=Homozygous (from autologous cell line XP3RO).
Disease Xeroderma pigmentosum, complementation group E (NCIt: C114771)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_ZR58 ! XP3RO
Sex of cell Female
Age at sampling 30Y
Category Transformed cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=1376435; DOI=10.1016/0921-8777(92)90049-9
Keeney S.N., Wein H., Linn S.M.
Biochemical heterogeneity in xeroderma pigmentosum complementation group E.
Mutat. Res. 273:49-56(1992)

Cross-references
Cell line collections (Providers) Coriell; GM02450
Cell line databases/resources CLO; CLO_0033327
Biological sample resources BioSample; SAMN00807789
Encyclopedic resources Wikidata; Q54837501
Entry history
Entry creation11-Feb-2013
Last entry update29-Jun-2023
Version number20