Cellosaurus logo
expasy logo

Cellosaurus XP25BE (CVCL_M288)

[Text version]
Cell line name XP25BE
Synonyms Xeroderma Pigmentosum 25 BEthesda; GM04489; KR04489
Accession CVCL_M288
Resource Identification Initiative To cite this cell line use: XP25BE (RRID:CVCL_M288)
Comments Population: African American.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:12816; XPC; Simple; c.2251-1_-2delAG (IVS11-1_IVS11-2delAG); Zygosity=Homozygous (Coriell=GM04489).
  • Mutation; HGNC; HGNC:12816; XPC; Unexplicit; IVS11-6_IVS11-7insCC; Zygosity=Homozygous (Coriell=GM04489).
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_M289 ! XP25BE LCL
Sex of cell Female
Age at sampling 7Y
Category Finite cell line
Publications

PubMed=18955168; DOI=10.1016/j.dnarep.2008.09.007; PMCID=PMC2684809
Khan S.G., Oh K.-S., Emmert S., Imoto K., Tamura D., DiGiovanna J.J., Shahlavi T., Armstrong N., Baker C.C., Neuburg M., Zalewski C., Brewer C.C., Wiggs E., Schiffmann R., Kraemer K.H.
XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms.
DNA Repair 8:114-125(2009)

Cross-references
Cell line collections (Providers) Coriell; GM04489
Cell line databases/resources CLO; CLO_0019667
Biological sample resources BioSample; SAMN00795295
Encyclopedic resources Wikidata; Q54838536
Entry history
Entry creation05-Nov-2013
Last entry update19-Dec-2024
Version number15