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Cellosaurus XP21BE LCL (CVCL_M295)

[Text version]
Cell line name XP21BE LCL
Synonyms Xeroderma Pigmentosum 21 BEthesda LCL; GM09942
Accession CVCL_M295
Resource Identification Initiative To cite this cell line use: XP21BE LCL (RRID:CVCL_M295)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
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_M296 ! XP21BE
Sex of cell Female
Age at sampling 7Y
Category Transformed cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=9804340; DOI=10.1046/j.1523-1747.1998.00391.x
Khan S.G., Levy H.L., Legerski R.J., Quackenbush E., Reardon J.T., Emmert S., Sancar A., Li L., Schneider T.D., Cleaver J.E., Kraemer K.H.
Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia.
J. Invest. Dermatol. 111:791-796(1998)

PubMed=18955168; DOI=10.1016/j.dnarep.2008.09.007
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; GM09942
Cell line databases/resources CLO; CLO_0029757
Encyclopedic resources Wikidata; Q54844129
Entry history
Entry creation05-Nov-2013
Last entry update29-Jun-2023
Version number15