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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
Takahashi Y., Endo Y., Kusaka-Kikushima A., Nakamura S., Nakazawa Y., Ogi T., Uryu M., Tsuji G., Furue M., Moriwaki S.
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