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Cellosaurus XP1CH [XP-V Cherevan] (CVCL_7372)

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Cell line name XP1CH [XP-V Cherevan]
Synonyms Xeroderma Pigmentosum 1 CHerevan; GM03055; GM3055
Accession CVCL_7372
Resource Identification Initiative To cite this cell line use: XP1CH [XP-V Cherevan] (RRID:CVCL_7372)
Comments Population: Caucasian; Russian Armenian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9181; POLH; Simple; p.Val125Ter (c.376C>T); Zygosity=Homozygous (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 28Y
Category Finite cell line
Publications

PubMed=7326997; DOI=10.1159/000131646
James Edward Cleaver, Arthur E. Greene, Lewis Lemon Coriell, Richard A. Mulivor;
Xeroderma pigmentosum variants.
Cytogenet. Cell Genet. 31:188-192(1981)

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; GM03055
Cell line databases/resources CLO; CLO_0013505
Biological sample resources BioSample; SAMN00808230
Encyclopedic resources Wikidata; Q54837843
Entry history
Entry creation04-Apr-2012
Last entry update19-Dec-2024
Version number21