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Cellosaurus XP14BE (CVCL_U671)

[Text version]
Cell line name XP14BE
Synonyms Xeroderma Pigmentosum 14 BEthesda; Te Jes
Accession CVCL_U671
Resource Identification Initiative To cite this cell line use: XP14BE (RRID:CVCL_U671)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:12816; XPC; Unexplicit; IVS6-13_-21del9; Zygosity=Homozygous (CelloPub=CLPUB00565).
Disease Xeroderma pigmentosum, complementation group C (NCIt: C114770)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_F326 ! XP14BE LCL
Sex of cell Male
Age at sampling 47Y
Category Finite cell line
Publications

PubMed=4811796; DOI=10.7326/0003-4819-80-2-221
Robbins J.H., Kraemer K.H., Lutzner M.A., Festoff B.W., Coon H.G.
Xeroderma pigmentosum. An inherited disease with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair.
Ann. Intern. Med. 80:221-248(1974)

CLPUB00565
Khan S.G., Oh K.-S., Inui H., Emmert S., Tamura D., DiGiovanna J.J., Shahlavi T., Baker C.C., Schneider T.D., Kraemer K.H.
Impaired lariat-loop formation causing abnormal XPC pre-mRNA splicing resulted in xeroderma pigmentosum.
J. Invest. Dermatol. 129 Suppl. 1:S28-S28(2009)

Cross-references
Cell line collections (Providers) ATCC; CRL-1311 - Discontinued
Encyclopedic resources Wikidata; Q54972005
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number10