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Cellosaurus XPHF12BE LCL (CVCL_1F20)

[Text version]
Cell line name XPHF12BE LCL
Synonyms Xeroderma Pigmentosum Heterozygote Female 12 BEthesda LCL; GM05511; GM 5511; GM05511B
Accession CVCL_1F20
Resource Identification Initiative To cite this cell line use: XPHF12BE LCL (RRID:CVCL_1F20)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 12814; XPA; Simple; p.Gln185His (c.555G>C); ClinVar=VCV000550646; Zygosity=Heterozygous; Note=Also produces mis-splicing (Coriell=GM05511).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_1F19 ! XPHF12BE
Sex of cell Female
Age at sampling 44Y
Category Transformed cell line
Publications

PubMed=6096450; DOI=10.1111/1523-1747.ep12260999
Otsuka F., Tarone R.E., Cayeux S., Robbins J.H.
Use of lymphoblastoid cell lines to evaluate the hypersensitivity to ultraviolet radiation in Cockayne syndrome.
J. Invest. Dermatol. 82:480-484(1984)

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

Cross-references
Cell line collections (Providers) Coriell; GM05511
Cell line databases/resources CLO; CLO_0024799
Encyclopedic resources Wikidata; Q54839031
Entry history
Entry creation08-Jul-2015
Last entry update30-Jan-2024
Version number18