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Cellosaurus XP22BE LCL (CVCL_M309)

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Cell line name XP22BE LCL
Synonyms Xeroderma Pigmentosum 22 BEthesda LCL; GM13817; GM17090
Accession CVCL_M309
Resource Identification Initiative To cite this cell line use: XP22BE LCL (RRID:CVCL_M309)
Comments Part of: Human variation panel.
Population: Korean.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:12816; XPC; Simple; c.2033+2T>G (IVS9+2T>G); ClinVar=VCV000000257; Zygosity=Homozygous; Note=Splice donor mutation (Coriell=GM17090).
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_ZN55 ! XP22BE
Sex of cell Male
Age at sampling 4Y
Category Transformed cell line
Publications

PubMed=9804340; DOI=10.1046/j.1523-1747.1998.00391.x
Sikandar G. Khan, Harvey Louis Levy, Randy J. Legerski, Elizabeth Quackenbush, Joyce T. Reardon, Steffen Emmert, Aziz Sancar, Lei Li, Thomas D. Schneider, James Edward Cleaver, Kenneth H. Kraemer;
Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia.
J. Invest. Dermatol. 111:791-796(1998)

Cross-references
Cell line collections (Providers) Coriell; GM13817
Coriell; GM17090
Cell line databases/resources CLO; CLO_0014523
CLO; CLO_0033592
Biological sample resources BioSample; SAMN00802652
Encyclopedic resources Wikidata; Q54846816
Entry history
Entry creation05-Nov-2013
Last entry update19-Dec-2024
Version number20