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Cellosaurus XP4KR (CVCL_ZQ22)

[Text version]
Cell line name XP4KR
Accession CVCL_ZQ22
Resource Identification Initiative To cite this cell line use: XP4KR (RRID:CVCL_ZQ22)
Comments Population: Japanese.
Donor information: Established from monozygotic twin of XP3KR (Cellosaurus=CVCL_L777).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 12814; XPA; Simple; c.390-1G>C (IVS3-1G>C); ClinVar=VCV000264684; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=7905727).
  • Mutation; HGNC; 12814; XPA; Simple; p.Arg228Ter (c.682C>T); ClinVar=VCV000000995; Zygosity=Heterozygous (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 Female
Age at sampling 8Y
Category Finite cell line
Publications

PubMed=8105686
Nishigori C., Zghal M., Yagi T., Imamura S., Komoun M.R., Takebe H.
High prevalence of the point mutation in exon 6 of the xeroderma pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosum group A patients in Tunisia.
Am. J. Hum. Genet. 53:1001-1006(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
Cell line collections (Providers) JCRB; KURB1032
Encyclopedic resources Wikidata; Q98135873
Entry history
Entry creation02-Jul-2020
Last entry update29-Jun-2023
Version number8