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Cellosaurus CS3BE (CVCL_F632)

[Text version]
Cell line name CS3BE
Synonyms Cockayne Syndrome 3 BEthesda; GM01856; GM-1856; GM 1856; GM1856; GM01856B; GM 1856B
Accession CVCL_F632
Resource Identification Initiative To cite this cell line use: CS3BE (RRID:CVCL_F632)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 3439; ERCC8; Simple; p.Glu13Ter (c.37G>T); ClinVar=VCV000001716; Zygosity=Heterozygous (PubMed=15744458).
  • Mutation; HGNC; 3439; ERCC8; Simple; p.Ala160Val (c.479C>T); ClinVar=VCV000001717; Zygosity=Heterozygous (PubMed=15744458).
Disease Cockayne syndrome type A (NCIt: C135725)
Cockayne syndrome (ORDO: Orphanet_191)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_F631 (CS3BE-S3-G1)
Originate from same individual CVCL_F633 ! CS3BE LCL
Sex of cell Male
Age at sampling 13Y
Category Finite cell line
Publications

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

PubMed=7301938; DOI=10.1111/j.1751-1097.1981.tb09049.x
Day R.S. 3rd, Ziolkowski C.H.J., DiMattina M.
Decreased host cell reactivation of UV-irradiated adenovirus 5 by fibroblasts from Cockayne's syndrome patients.
Photochem. Photobiol. 34:603-607(1981)

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)

PubMed=2903889; DOI=10.1080/09553008814552321
Arlett C.F., Green M.H.L., Priestley A., Harcourt S.A., Mayne L.V.
Comparative human cellular radiosensitivity: I. The effect of SV40 transformation and immortalisation on the gamma-irradiation survival of skin derived fibroblasts from normal individuals and from ataxia-telangiectasia patients and heterozygotes.
Int. J. Radiat. Biol. 54:911-928(1988)

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)

PubMed=8317483; PMCID=PMC1682247
Vermeulen W., Jaeken J., Jaspers N.G.J., Bootsma D., Hoeijmakers J.H.J.
Xeroderma pigmentosum complementation group G associated with Cockayne syndrome.
Am. J. Hum. Genet. 53:185-192(1993)

PubMed=9777763; DOI=10.1016/S0190-9622(98)70005-2
Miyauchi-Hashimoto H., Akaeda T., Maihara T., Ikenaga M., Horio T.
Cockayne syndrome without typical clinical manifestations including neurologic abnormalities.
J. Am. Acad. Dermatol. 39:565-570(1998)

PubMed=15744458; DOI=10.1007/s10038-004-0228-2
Ridley A.J., Colley J., Wynford-Thomas D., Jones C.J.
Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects.
J. Hum. Genet. 50:151-154(2005)

PubMed=17297471; DOI=10.1038/sj.onc.1210232
D'Errico M., Parlanti E., Teson M., Degan P., Lemma T., Calcagnile A.S., Iavarone I., Jaruga P., Ropolo M., Pedrini A.M., Orioli D., Frosina G., Zambruno G., Dizdaroglu M., Stefanini M., Dogliotti E.
The role of CSA in the response to oxidative DNA damage in human cells.
Oncogene 26:4336-4343(2007)

PubMed=18079351; DOI=10.1259/bjr/27072321
Arlett C.F., Green M.H.L., Rogers P.B., Lehmann A.R., Plowman P.N.
Minimal ionizing radiation sensitivity in a large cohort of xeroderma pigmentosum fibroblasts.
Br. J. Radiol. 81:51-58(2008)

PubMed=19329487; DOI=10.1073/pnas.0902113106; PMCID=PMC2667150
Nardo T., Oneda R., Spivak G., Vaz B., Mortier L., Thomas P., Orioli D., Laugel V., Stary A., Hanawalt P.C., Sarasin A., Stefanini M.
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage.
Proc. Natl. Acad. Sci. U.S.A. 106:6209-6214(2009)

PubMed=27543334; DOI=10.1073/pnas.1610020113; PMCID=PMC5018765
Reid-Bayliss K.S., Arron S.T., Loeb L.A., Bezrookove V., Cleaver J.E.
Why Cockayne syndrome patients do not get cancer despite their DNA repair deficiency.
Proc. Natl. Acad. Sci. U.S.A. 113:10151-10156(2016)

Cross-references
Cell line collections (Providers) Coriell; GM01856
JCRB; KURB1908
Cell line databases/resources CLO; CLO_0031403
Biological sample resources BioSample; SAMN00807229
Encyclopedic resources Wikidata; Q54837129
Entry history
Entry creation11-Feb-2013
Last entry update29-Jun-2023
Version number21