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Cellosaurus XP21HM (CVCL_ZQ67)

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Cell line name XP21HM
Synonyms Xeroderma Pigmentosum 21 HamaMatsu
Accession CVCL_ZQ67
Resource Identification Initiative To cite this cell line use: XP21HM (RRID:CVCL_ZQ67)
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:12814; XPA; Simple; c.390-1G>C (IVS3-1G>C); ClinVar=VCV000264684; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=20574439).
  • Mutation; HGNC; HGNC:12814; XPA; Simple; p.Thr260Ilefs*8 (c.779delCinsTTCTT) (779insTT) (780insTT); Zygosity=Heterozygous (PubMed=20574439).
Disease Xeroderma pigmentosum, complementation group A (NCIt: C3965)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 30Y
Category Finite cell line
Publications

PubMed=20574439; DOI=10.1038/jid.2010.137
Yoshito Takahashi, Yoko Endo, Yoshinori Sugiyama, Shintaro Inoue, Masahiro Iijima, Yasushi Tomita, Satoshi Kuru, Masahiro Takigawa, Shinichi Moriwaki;
XPA gene mutations resulting in subtle truncation of protein in xeroderma pigmentosum group A patients with mild skin symptoms.
J. Invest. Dermatol. 130:2481-2488(2010)

Cross-references
Encyclopedic resources Wikidata; Q98135528
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8