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Cellosaurus XP22OS (CVCL_ZM95)

[Text version]
Cell line name XP22OS
Synonyms Xeroderma Pigmentosum 22 OSaka
Accession CVCL_ZM95
Resource Identification Initiative To cite this cell line use: XP22OS (RRID:CVCL_ZM95)
Comments Population: Japanese.
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=Homozygous; Note=Splice acceptor mutation (PubMed=7947212).
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 6Y
Category Finite cell line
Publications

PubMed=7947212; DOI=10.1111/j.1365-2133.1994.tb08562.x
Maeda T., Sato K., Minami H., Taguchi H., Yoshikawa K.
Severe neurological abnormalities associated with a mutation in the zinc-finger domain in a group A xeroderma pigmentosum patient.
Br. J. Dermatol. 131:566-570(1994)

Cross-references
Cell line collections (Providers) JCRB; KURB1333
Encyclopedic resources Wikidata; Q98135554
Entry history
Entry creation02-Jul-2020
Last entry update29-Jun-2023
Version number7