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Cellosaurus XP22KY (CVCL_ZQ53)

[Text version]
Cell line name XP22KY
Synonyms Xeroderma Pigmentosum 22 KYoto
Accession CVCL_ZQ53
Resource Identification Initiative To cite this cell line use: XP22KY (RRID:CVCL_ZQ53)
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=Homozygous; Note=Splice acceptor mutation (PubMed=7905727).
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 Male
Age at sampling 3Y
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)

PubMed=7905727; DOI=10.1001/archderm.1994.01690020057009
Nishigori C., Moriwaki S., Takebe H., Tanaka T., Imamura S.
Gene alterations and clinical characteristics of xeroderma pigmentosum group A patients in Japan.
Arch. Dermatol. 130:191-197(1994)

Cross-references
Encyclopedic resources Wikidata; Q98135551
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8