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Cellosaurus XP71TMA (CVCL_AK70)

[Text version]
Cell line name XP71TMA
Synonyms Xeroderma Pigmentosum Turkey MAlatya 71; GM14875
Accession CVCL_AK70
Resource Identification Initiative To cite this cell line use: XP71TMA (RRID:CVCL_AK70)
Comments Population: Turkish.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9181; POLH; Simple; p.Gln152Ter (c.454C>T); Zygosity=Homozygous (PubMed=18368133).
Disease Xeroderma pigmentosum variant type (NCIt: C141367)
Xeroderma pigmentosum variant (ORDO: Orphanet_90342)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 8Y
Category Finite cell line
Publications

PubMed=18368133; DOI=10.1038/jid.2008.48; PMCID=PMC2562952
Inui H., Oh K.-S., Nadem C., Ueda T., Khan S.G., Metin A., Gozukara E.M., Emmert S., Slor H., Busch D.B., Baker C.C., DiGiovanna J.J., Tamura D., Seitz C.S., Gratchev A., Wu W.-H., Chung K.Y., Chung H.J., Azizi E., Woodgate R., Schneider T.D., Kraemer K.H.
Xeroderma pigmentosum-variant patients from America, Europe, and Asia.
J. Invest. Dermatol. 128:2055-2068(2008)

Cross-references
Cell line collections (Providers) Coriell; GM14875
Cell line databases/resources CLO; CLO_0032069
Encyclopedic resources Wikidata; Q54847487
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number12