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Cellosaurus XPH1CH (CVCL_L926)

[Text version]
Cell line name XPH1CH
Synonyms Xeroderma Pigmentosum Heterozygote 1 CHerevan; GM03054; GM3054
Accession CVCL_L926
Resource Identification Initiative To cite this cell line use: XPH1CH (RRID:CVCL_L926)
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=Heterozygous (from familial inference of XP2CH).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 50Y
Category Finite cell line
Publications

PubMed=7326997; DOI=10.1159/000131646
Cleaver J.E., Greene A.E., Coriell L.L., Mulivor R.A.
Xeroderma pigmentosum variants.
Cytogenet. Cell Genet. 31:188-192(1981)

CLPUB00447
Mulivor R.A., Suchy S.F.
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)

Cross-references
Cell line collections (Providers) Coriell; GM03054
Cell line databases/resources CLO; CLO_0013506
Biological sample resources BioSample; SAMN00808229
Encyclopedic resources Wikidata; Q54837841
Entry history
Entry creation06-May-2013
Last entry update19-Dec-2024
Version number14