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Cellosaurus Kps23F (CVCL_ZT07)

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Cell line name Kps23F
Accession CVCL_ZT07
Resource Identification Initiative To cite this cell line use: Kps23F (RRID:CVCL_ZT07)
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:29304; UVSSA; Simple; p.Lys123Ter (c.367A>T); ClinVar=VCV000031569; Zygosity=Heterozygous (from familial inference of Kps2; Kps3).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Adult
Category Finite cell line
Publications

PubMed=7513056; DOI=10.1016/0921-8777(94)90068-x
Toshiki Itoh, Tomomichi Ono, Masaru Yamaizumi;
A new UV-sensitive syndrome not belonging to any complementation groups of xeroderma pigmentosum or Cockayne syndrome: siblings showing biochemical characteristics of Cockayne syndrome without typical clinical manifestations.
Mutat. Res. 314:233-248(1994)

Cross-references
Encyclopedic resources Wikidata; Q98126836
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8