GM00739
Fibroblast from Skin, Back
Description:
COCKAYNE SYNDROME, TYPE B; CSB
EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
|
Biopsy Source
|
Back
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Back
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
5.53 |
| Passage Frozen |
17 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Gene |
ERCC6 |
| Chromosomal Location |
10q11 |
| Allelic Variant 1 |
K337X; COCKAYNE SYNDROME, TYPE B |
| Identified Mutation |
LYS337TER |
| |
| Gene |
ERCC6 |
| Chromosomal Location |
10q11 |
| Allelic Variant 2 |
R857X; COCKAYNE SYNDROME, TYPE B |
| Identified Mutation |
ARG857TER |
| Remarks |
46,XX; increased UV light-induced sister chromatid exchanges and cell killing; patient is CS1AN; complementation group B; donor subject is a compound heterozygote: one allele has an A>T transversion at nucleotide 1088 in exon 5 of the ERCC6 gene (1088A>T) resulting in premature truncation of the protein [Lys377Ter (K377X)]; the second allele has a C>T transition at nucleotide 2648 in exon 15 (2648C>T) triggering an erroneous splice event resulting in a frameshift [Arg857Ter (R857X)] |
| Martins S, Hacheney I, Teichweyde N, Hildebrandt B, Krutmann J, Rossi A, Generation of an induced pluripotent stem cell line (IUFi001) from a Cockayne syndrome patient carrying a mutation in the ERCC6 gene Stem cell research55:102456 2021 |
| PubMed ID: 34271225 |
| |
| Gregersen LH, Mitter R, Svejstrup JQ, Using TT Nature protocols15:604-627 2019 |
| PubMed ID: 31915390 |
| |
| Rajkumar-Calkins AS, Szalat R, Dreze M, Khan I, Frazier Z, Reznichenkov E, Schnorenberg MR, Tsai YF, Nguyen H, Kochupurakkal B, D'Andrea AD, Shapiro GI, Lazaro JB, Mouw KW, Functional profiling of nucleotide Excision repair in breast cancer DNA repair82:102697 2019 |
| PubMed ID: 31499327 |
| |
| Kong YW, Dreaden EC, Morandell S, Zhou W, Dhara SS, Sriram G, Lam FC, Patterson JC, Quadir M, Dinh A, Shopsowitz KE, Varmeh S, Yilmaz ÖH, Lippard SJ, Reinhardt HC, Hemann MT, Hammond PT, Yaffe MB, Enhancing chemotherapy response through augmented synthetic lethality by co-targeting nucleotide excision repair and cell-cycle checkpoints Nature communications11:4124 2018 |
| PubMed ID: 32807787 |
| |
| Batenburg NL, Mitchell TR, Leach DM, Rainbow AJ, Zhu XD, Cockayne Syndrome group B protein interacts with TRF2 and regulates telomere length and stability Nucleic acids research40:9661-74 2012 |
| PubMed ID: 22904069 |
| |
| Bailey AD, Gray LT, Pavelitz T, Newman JC, Horibata K, Tanaka K, Weiner AM, The conserved Cockayne syndrome B-piggyBac fusion protein (CSB-PGBD3) affects DNA repair and induces both interferon-like and innate antiviral responses in CSB-null cells DNA repair11:488-501 2011 |
| PubMed ID: 22483866 |
| |
| Laugel V, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J, Lyonnet S, Murday V, Gubser-Mercati D, Funalot B, Brueton L, Sanchez Del Pozo J, Muñoz E, Gennery AR, Salih M, Noruzinia M, Prescott K, Ramos L, Stark Z, Fieggen K, Chabrol B, Sarda P, Edery P, Bloch-Zupan A, Fawcett H, Pham D, Egly JM, Lehmann AR, Sarasin A, Dollfus H, Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome Human mutation31:113-26 2009 |
| PubMed ID: 19894250 |
| |
| Lee DF, Drouin R, Pitsikas P, Rainbow AJ, Detection of an involvement of the human mismatch repair genes hMLH1 and hMSH2 in nucleotide excision repair is dependent on UVC fluence to cells. Cancer Res64(11):3865-70 2004 |
| PubMed ID: 15172995 |
| |
| Tuo J, Jaruga P, Rodriguez H, Bohr VA, Dizdaroglu M, Primary fibroblasts of Cockayne syndrome patients are defective in cellular
repair of 8-hydroxyguanine and 8-hydroxyadenine resulting from oxidative stress. FASEB J17(6):668-74 2003 |
| PubMed ID: 12665480 |
| |
| Le Page F, Kwoh EE, Avrutskaya A, Gentil A, Leadon SA, Sarasin A, Cooper PK, Transcription-coupled repair of 8-oxoguanine: requirement for XPG, TFIIH, and
CSB and implications for Cockayne syndrome. Cell101(2):159-71 2000 |
| PubMed ID: 10786832 |
| |
| Dianov G, Bischoff C, Sunesen M, Bohr VA, Repair of 8-oxoguanine in DNA is deficient in Cockayne syndrome group B cells. Nucleic Acids Res27(5):1365-8 1999 |
| PubMed ID: 9973627 |
| |
| Leadon SA, Cooper PK, Preferential repair of ionizing radiation-induced damage in the transcribed strand of an active human gene is defective in Cockayne syndrome. Proc Natl Acad Sci U S A90(22):10499-503 1993 |
| PubMed ID: 8248136 |
| |
| Troelstra C, van Gool A, de Wit J, Vermeulen W, Bootsma D, Hoeijmakers JH, ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes. Cell71(6):939-53 1992 |
| PubMed ID: 1339317 |
| |
| Jaeken J, Klocker H, Schwaiger H, Bellmann R, Hirsch-Kauffmann M, Schweiger M, Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome. Hum Genet83:339-46 1989 |
| PubMed ID: 2478446 |
| |
| Mayne LV, Priestley A, James MR, Burke JF, Efficient immortalization and morphological transformation of human fibroblasts by transfection with SV40 DNA linked to a dominant marker. Exp Cell Res162:530-8 1986 |
| PubMed ID: 3002824 |
| |
| Cleaver JE, DNA repair deficiencies and cellular senescence are unrelated in xeroderma pigmentosum cell lines. Mech Ageing Dev27:189-96 1984 |
| PubMed ID: 6492896 |
| |
| Berger NA, Berger SJ, Catino DM, Abnormal NAD+ levels in cells from patients with Fanconi's anaemia. Nature299:271-3 1982 |
| PubMed ID: 6810184 |
| |
| Cleaver JE, Normal reconstruction of DNA supercoiling and chromatin structure in cockayne syndrome cells during repair of damage from ultraviolet light. Am J Hum Genet34:566-75 1982 |
| PubMed ID: 7102674 |
| |
| Diatloff-Zito C, Macieira-Coelho A, Effect of growth arrest on the doubling potential of human fibroblasts in vitro: a possible influence of the donor. In Vitro18:606-10 1982 |
| PubMed ID: 6292076 |
| |
| Fujiwara Y, Goto K, Kano Y, Ultraviolet hypersensitivity of Cockayne's syndrome fibroblasts. Effects of nicotinamide adenine dinucleotide and poly(ADP-ribose) synthesis. Exp Cell Res139:207-15 1982 |
| PubMed ID: 6806108 |
| |
| Lehmann AR, Three complementation groups in Cockayne syndrome. Mutat Res106:347-56 1982 |
| PubMed ID: 6185841 |
| |
| Mayne LV, Lehmann AR, Waters R, Excision repair in Cockayne syndrome. Mutat Res106:179-89 1982 |
| PubMed ID: 7162528 |
| |
| Deschavanne PJ, Diatloff-Zito C, Macieria-Coelho A, Malaise EP, Unusual sensitivity of two cockayne's syndrome cell strains to both UV and gamma irradiation. Mutat Res91:403-6 1981 |
| PubMed ID: 7266580 |
| |
| Marshall RR, Arlett CF, Harcourt SA, Broughton BA, Increased sensitivity of cell strains from Cockayne's syndrome to sister-chromatid-exchange induction and cell killing by UV light. Mutat Res69:107-12 1980 |
| PubMed ID: 7360141 |
| |
| Andrews AD, Barrett SF, Yoder FW, Robbins JH, Cockayne's syndrome fibroblasts have increased sensitivity to ultraviolet light but normal rates of unscheduled DNA synthesis. J Invest Dermatol70:237-9 1978 |
| PubMed ID: 641373 |
| |
| Moses RE, Beaudet AL, Apurinic DNA endonuclease activities in repair-deficient human cell lines. Nucleic Acids Res5:463-73 1978 |
| PubMed ID: 634794 |
| |
| Andrews AD, Barrett SF, Robbins JH, Relation of D.N.A. repair processes to pathological ageing of the nervous system in xeroderma pigmentosum. Lancet1:1318-1320 1976 |
| PubMed ID: 58310 |
| Passage Frozen |
17 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
|