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Cellosaurus XP24BE (CVCL_M302)

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Cell line name XP24BE
Synonyms Xeroderma Pigmentosum 24 BEthesda; GM11638
Accession CVCL_M302
Resource Identification Initiative To cite this cell line use: XP24BE (RRID:CVCL_M302)
Comments Population: Caucasian; Hungarian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:12816; XPC; Simple; p.Arg155Ter (c.463C>T); ClinVar=VCV000496268; Zygosity=Heterozygous (Coriell=GM11638).
  • Mutation; HGNC; HGNC:12816; XPC; Simple; c.622-2A>G (IVS5.1-2A>G); ClinVar=VCV000550100; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM11638).
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_M301 ! XP24BE LCL
Sex of cell Female
Age at sampling 20Y
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; GM11638
Cell line databases/resources CLO; CLO_0021324
Encyclopedic resources Wikidata; Q54845210
Entry history
Entry creation05-Nov-2013
Last entry update10-Apr-2025
Version number19