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Cellosaurus XP2CH (CVCL_L779)

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Cell line name XP2CH
Synonyms Xeroderma Pigmentosum 2 CHerevan; GM03053; GM3053
Accession CVCL_L779
Resource Identification Initiative To cite this cell line use: XP2CH (RRID:CVCL_L779)
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 Female
Age at sampling 23Y
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; GM03053
Cell line databases/resources CLO; CLO_0013499
Biological sample resources BioSample; SAMN00808228
Encyclopedic resources Wikidata; Q54837840
Entry history
Entry creation06-May-2013
Last entry update19-Dec-2024
Version number17