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Cellosaurus XP22BE (CVCL_ZN55)

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Cell line name XP22BE
Synonyms Xeroderma Pigmentosum 22 BEthesda
Accession CVCL_ZN55
Resource Identification Initiative To cite this cell line use: XP22BE (RRID:CVCL_ZN55)
Comments Population: Korean.
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.2033+2T>G (IVS9+2T>G); ClinVar=VCV000000257; Zygosity=Homozygous; Note=Splice donor mutation (PubMed=9804340).
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_M309 ! XP22BE LCL
Sex of cell Male
Age at sampling 4Y
Category Finite 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
Encyclopedic resources Wikidata; Q98135543
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8