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Cellosaurus CS2BE (CVCL_7314)

[Text version]
Cell line name CS2BE
Synonyms Cockayne Syndrome 2 BEthesda; CS5HO; GM01098; GM-1098; GM 1098; GM1098; GM 1098B; GM01098B
Accession CVCL_7314
Resource Identification Initiative To cite this cell line use: CS2BE (RRID:CVCL_7314)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Ser222Tyrfs*25 (c.665_723del59) (Ex10del); Zygosity=Heterozygous (PubMed=9443879).
  • Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Tyr1179Ilefs*22 (c.3535delT); Zygosity=Heterozygous (PubMed=9443879).
Disease Cockayne syndrome type B (NCIt: C135726)
Cockayne syndrome (ORDO: Orphanet_191)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_L458 ! CS2BE LCL
Sex of cell Male
Age at sampling 20Y
Category Finite cell line
Publications

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
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=157803
Alan R. Lehmann, Susan Kirk-Bell, Lynne V. Mayne;
Abnormal kinetics of DNA synthesis in ultraviolet light-irradiated cells from patients with Cockayne's syndrome.
Cancer Res. 39:4237-4241(1979)

PubMed=431551; DOI=10.1016/0027-5107(79)90194-5
Margaret H. Wade, Ernest H.-Y. Chu;
Effects of DNA damaging agents on cultured fibroblasts derived from patients with Cockayne syndrome.
Mutat. Res. 59:49-60(1979)

PubMed=7471106
Colin Francis Arlett, Susan A. Harcourt;
Survey of radiosensitivity in a variety of human cell strains.
Cancer Res. 40:926-932(1980)

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

PubMed=6622549; DOI=10.1111/j.1751-1097.1983.tb08373.x
Thomas Patrick Coohill, Sharon P. Moore, Rebecca A. Grider;
Action spectra (254-302 nm) for four human photosensitive cell lines.
Photochem. Photobiol. 38:105-107(1983)

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

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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=9443879; DOI=10.1086/301686; PMCID=PMC1376810
Donna L. Mallery, Bianca Tanganelli, Stefano Colella, Herdis Steingrimsdottir, Alain J. van Gool, Christine Troelstra, Miria Stefanini, Alan R. Lehmann;
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.
Am. J. Hum. Genet. 62:77-85(1998)

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

PubMed=12665480; DOI=10.1096/fj.02-0851com
Jing-Sheng Tuo, Pawel Jaruga, Henry Rodriguez, Vilhelm A. Bohr, Miral Dizdaroglu;
Primary fibroblasts of Cockayne syndrome patients are defective in cellular repair of 8-hydroxyguanine and 8-hydroxyadenine resulting from oxidative stress.
FASEB J. 17:668-674(2003)

Cross-references
Cell line collections (Providers) Coriell; GM01098
JCRB; KURB1916
Cell line databases/resources CLO; CLO_0030186
Biological sample resources BioSample; SAMN00803626
Encyclopedic resources Wikidata; Q54836644
Entry history
Entry creation04-Apr-2012
Last entry update19-Dec-2024
Version number23