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Cellosaurus XP46HM (CVCL_ZQ64)

[Text version]
Cell line name XP46HM
Synonyms Xeroderma Pigmentosum 46 HamaMatsu
Accession CVCL_ZQ64
Resource Identification Initiative To cite this cell line use: XP46HM (RRID:CVCL_ZQ64)
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; p.Gly176Aspfs*6 (c.529G>A); Zygosity=Homozygous; Note=Causes aberrant splicing (PubMed=27603812).
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 62Y
Category Finite cell line
Publications

PubMed=27603812; DOI=10.1111/bjd.15051
Yoshito Takahashi, Yoko Endo, Ayumi Kusaka-Kikushima, Sachiko Nakamura, Yuka Nakazawa, Tomoo Ogi, Miki Uryu, Gaku Tsuji, Masutaka Furue, Shinichi Moriwaki;
An XPA gene splicing mutation resulting in trace protein expression in an elderly patient with xeroderma pigmentosum group A without neurological abnormalities.
Br. J. Dermatol. 177:253-257(2017)

Cross-references
Encyclopedic resources Wikidata; Q98135843
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8