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Cellosaurus XP1EHF (CVCL_ZW28)

[Text version]
Cell line name XP1EHF
Synonyms Xeroderma Pigmentosum 1 EHime Father
Accession CVCL_ZW28
Resource Identification Initiative To cite this cell line use: XP1EHF (RRID:CVCL_ZW28)
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 (from familial inference of XP1EH).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Adult
Category Finite cell line
Publications

PubMed=8101209; DOI=10.1111/1523-1747.ep12360046
Moriwaki S.-i., Nishigori C., Teramoto T., Tanaka T., Kore-eda S., Takebe H., Imamura S.
Absence of DNA repair deficiency in the confirmed heterozygotes of xeroderma pigmentosum group A.
J. Invest. Dermatol. 101:69-72(1993)

Cross-references
Encyclopedic resources Wikidata; Q102115128
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number7