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Cellosaurus XP25BE (CVCL_M288)

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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
Sikandar G. Khan, Kyu-Seon Oh, Steffen Emmert, Kyoko Imoto, Deborah Tamura, John Joseph DiGiovanna, Tala Shahlavi, Najealicka Armstrong, Carl C. Baker, Marcy Neuburg, Christopher Zalewski ...Show all 15 authors... , Carmen C. Brewer, Edythe Wiggs, Raphael Schiffmann, Kenneth H. Kraemer; Show fewer authors
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