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Cellosaurus Mps1 (CVCL_ZU23)

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Cell line name Mps1
Accession CVCL_ZU23
Resource Identification Initiative To cite this cell line use: Mps1 (RRID:CVCL_ZU23)
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:3439; ERCC8; Unexplicit; Ex1del; Zygosity=Homozygous (PubMed=12655141).
Disease Cockayne syndrome type A (NCIt: C135725)
Cockayne syndrome (ORDO: Orphanet_191)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
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)

PubMed=12655141; DOI=10.1266/ggs.78.93
Yan Ren, Masafumi Saijo, Yoshimichi Nakatsu, Hiroshi Nakai, Masaru Yamaizumi, Kiyoji Tanaka;
Three novel mutations responsible for Cockayne syndrome group A.
Genes Genet. Syst. 78:93-102(2003)

Cross-references
Encyclopedic resources Wikidata; Q98127283
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number7