Cellosaurus logo
expasy logo

Cellosaurus XPPHBE (CVCL_AK35)

[Text][XML][JSON]
Cell line name XPPHBE
Synonyms GM02449; GM02449B; GM02449C
Accession CVCL_AK35
Resource Identification Initiative To cite this cell line use: XPPHBE (RRID:CVCL_AK35)
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.Asn359fs (c.1078insG); Zygosity=Heterozygous (PubMed=10398605).
Disease Xeroderma pigmentosum variant type (NCIt: C141367)
Xeroderma pigmentosum variant (ORDO: Orphanet_90342)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 30Y
Category Transformed cell line
Publications

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

PubMed=10398605; DOI=10.1126/science.285.5425.263
Robert E. Johnson, Christine M. Kondratick, Satya Prakash, Louise Prakash;
hRAD30 mutations in the variant form of xeroderma pigmentosum.
Science 285:263-265(1999)

Cross-references
Cell line collections (Providers) Coriell; GM02449
Cell line databases/resources CLO; CLO_0033324
Biological sample resources BioSample; SAMN00807787
Encyclopedic resources Wikidata; Q54837500
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number13