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Cellosaurus XP38BE LCL (CVCL_ZS46)

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Cell line name XP38BE LCL
Synonyms Xeroderma Pigmentosum 38 BEthesda LCL; AG02593; AG2593
Accession CVCL_ZS46
Resource Identification Initiative To cite this cell line use: XP38BE LCL (RRID:CVCL_ZS46)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:9181; POLH; Simple; p.Asp360Glyfs*32 (c.1078dupG) (c.1078_1079dupG); ClinVar=VCV001696282; Zygosity=Homozygous (from autologous cell line XP38BE).
Disease Xeroderma pigmentosum variant type (NCIt: C141367)
Xeroderma pigmentosum variant (ORDO: Orphanet_90342)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_ZN97 ! XP38BE
Sex of cell Male
Age at sampling 8Y
Category Transformed cell line
Publications

CLPUB00387
Lewis Lemon Coriell, Arthur E. Greene, Richard A. Mulivor;
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 7th edition. October 1980.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda; USA (1980)

PubMed=7253718; DOI=10.1016/0047-6374(81)90027-0
Nirmal K. Das, Donald G. Murphy;
The National Institute on Aging repository cell cultures.
Mech. Ageing Dev. 16:1-17(1981)

Cross-references
Cell line collections (Providers) Coriell; AG02593 - Discontinued
Encyclopedic resources Wikidata; Q98135742
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8