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Cellosaurus XP1MG (CVCL_XE09)

[Text version]
Cell line name XP1MG
Accession CVCL_XE09
Resource Identification Initiative To cite this cell line use: XP1MG (RRID:CVCL_XE09)
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 2Y
Category Finite cell line
Publications

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

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)

PubMed=9025096; DOI=10.1093/mutage/12.1.41
Yagi T., Wood R.D., Takebe H.
A low content of ERCC1 and a 120 kDa protein is a frequent feature of group F xeroderma pigmentosum fibroblast cells.
Mutagenesis 12:41-44(1997)

Cross-references
Cell line collections (Providers) JCRB; KURB1001
Encyclopedic resources Wikidata; Q98135459
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number10