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Cellosaurus XP21HM (CVCL_ZQ67)

[Text version]
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
Takahashi Y., Endo Y., Sugiyama Y., Inoue S., Iijima M., Tomita Y., Kuru S., Takigawa M., Moriwaki S.
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