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Cellosaurus XP7KA (CVCL_UH38)

[Text version]
Cell line name XP7KA
Synonyms Xeroderma Pigmentosum 7 KAnazawa
Accession CVCL_UH38
Resource Identification Initiative To cite this cell line use: XP7KA (RRID:CVCL_UH38)
Comments Population: Japanese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Glu502Lys (c.1504G>A) (E491K); Zygosity=Heterozygous (PubMed=9580660).
  • Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Ile529Thr (c.1586T>C) (I518T); Zygosity=Heterozygous (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 42Y
Category Finite cell line
Publications

PubMed=9025096; DOI=10.1093/mutage/12.1.41
Yagi T., Wood R.D., Takebe H.
A low content of ERCC1 and a 120 kDa protein is a frequent feature of group F xeroderma pigmentosum fibroblast cells.
Mutagenesis 12:41-44(1997)

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; KURB1102
Encyclopedic resources Wikidata; Q98136109
Entry history
Entry creation13-Nov-2018
Last entry update19-Dec-2024
Version number11