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Cellosaurus XP1HM (CVCL_ZQ49)

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Cell line name XP1HM
Synonyms Xeroderma Pigmentosum 1 HamaMatsu
Accession CVCL_ZQ49
Resource Identification Initiative To cite this cell line use: XP1HM (RRID:CVCL_ZQ49)
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 Female
Age at sampling 3Y
Category Finite cell line
Publications

PubMed=2778352; DOI=10.1111/1523-1747.ep12284060
Chikako Nishigori, Yoshiki Miyachi, Sadao Imamura, Hiraku Takebe;
Reduced superoxide dismutase activity in xeroderma pigmentosum fibroblasts.
J. Invest. Dermatol. 93:506-510(1989)

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

Cross-references
Encyclopedic resources Wikidata; Q98135427
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8