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Cellosaurus XP1TS (CVCL_UH40)

[Text version]
Cell line name XP1TS
Accession CVCL_UH40
Resource Identification Initiative To cite this cell line use: XP1TS (RRID:CVCL_UH40)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 3436; ERCC4; Simple; p.Val605_Gly611del (c.1812_1832del); Zygosity=Homozygous or hemizygous (PubMed=9580660).
Disease Xeroderma pigmentosum, complementation group F (NCIt: C3968)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 73Y
Category Finite cell line
Publications

PubMed=9580660; DOI=10.1093/hmg/7.6.969
Matsumura Y., Nishigori C., Yagi T., Imamura S., Takebe H.
Characterization of molecular defects in xeroderma pigmentosum group F in relation to its clinically mild symptoms.
Hum. Mol. Genet. 7:969-974(1998)

Cross-references
Cell line collections (Providers) JCRB; KURB1086
Encyclopedic resources Wikidata; Q98135492
Entry history
Entry creation13-Nov-2018
Last entry update29-Jun-2023
Version number7