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Cellosaurus XP1SF (CVCL_M293)

[Text version]
Cell line name XP1SF
Synonyms Xeroderma Pigmentosum 1 San Fransisco; GM06090; GM17013
Accession CVCL_M293
Resource Identification Initiative To cite this cell line use: XP1SF (RRID:CVCL_M293)
Comments Part of: Human variation panel.
Population: Chinese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 9181; POLH; Simple; p.Gln23Ter (c.67C>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 42Y
Category Finite cell line
Publications

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

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

Cross-references
Cell line collections (Providers) Coriell; GM06090
Coriell; GM17013
Cell line databases/resources CLO; CLO_0018027
CLO; CLO_0023614
Encyclopedic resources Wikidata; Q54842157
Entry history
Entry creation05-Nov-2013
Last entry update29-Jun-2023
Version number15