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Cellosaurus XP24BE (CVCL_M302)

[Text version]
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; c.622-2A>G (IVS5.1-2A>G); ClinVar=VCV000550100; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM11638).
  • Mutation; HGNC; HGNC:12816; XPC; Simple; p.Arg155Ter (c.463C>T); ClinVar=VCV000496268; Zygosity=Heterozygous (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
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; GM11638
Cell line databases/resources CLO; CLO_0021324
Encyclopedic resources Wikidata; Q54845210
Entry history
Entry creation05-Nov-2013
Last entry update19-Dec-2024
Version number18