GM16095
Fibroblast from Skin, Unspecified
Description:
COCKAYNE SYNDROME, TYPE B; CSB
EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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pSV3gpt
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Sample Source
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Fibroblast from Skin, Unspecified
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
5.9 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
ERCC6 |
| Chromosomal Location |
10q11 |
| Allelic Variant 1 |
K337X; COCKAYNE SYNDROME, TYPE B |
| Identified Mutation |
LYS337TER |
| Remarks |
Line CS1ANps3g2; SV40 (pSV3gpt) transformed GM00739; 46,XX; increased UV light-induced sister chromatid exchanges and cell killing; complementation group B; GM16095 has only one allele in common with the untransformed line from the same subject, GM00739 (CS1AN), as described by Troelstra et al (1992): this 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 {Lys337Ter (K337X)] |
| Rieckher M, Gallrein C, Alquezar-Artieda N, Bourached-Silva N, Vaddavalli PL, Mares D, Backhaus M, Blindauer T, Greger K, Wiesner E, Pontel LB, Schumacher B, Distinct DNA repair mechanisms prevent formaldehyde toxicity during development, reproduction and aging Nucleic acids research: 2024 |
| PubMed ID: 38894680 |
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| Lam AK, Mulcrone PL, Frabutt D, Zhang J, Chrzanowski M, Arisa S, Munoz M, Li X, Biswas M, Markusic D, Herzog RW, Xiao W, Comprehensive Comparison of AAV Purification Methods: Iodixanol Gradient Centrifugation vs Immuno-Affinity Chromatography Advances in cell and gene therapy2023: 2023 |
| PubMed ID: 38130431 |
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| Mulcrone PL, Lam AK, Frabutt D, Zhang J, Chrzanowski M, Herzog RW, Xiao W, Chemical modification of AAV9 capsid with N-ethyl maleimide alters vector tissue tropism Scientific reports13:8436 2023 |
| PubMed ID: 37231038 |
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| Sarmini L, Meabed M, Emmanouil E, Atsaves G, Robeska E, Karwowski BT, Campalans A, Gimisis T, Khobta A, Requirement of transcription-coupled nucleotide excision repair for the removal of a specific type of oxidatively induced DNA damage Nucleic acids research13:8436 2023 |
| PubMed ID: 37026475 |
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| Zhang J, Frabutt DA, Chrzanowski M, Li N, Miller LM, Tian J, Mulcrone PL, Lam AK, Draper BE, Jarrold MF, Herzog RW, Xiao W, A novel class of self-complementary AAV vectors with multiple advantages based on cceAAV lacking mutant ITR Molecular therapy Methods & clinical development32:101206 2023 |
| PubMed ID: 38390555 |
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| Batenburg NL, Cui S, Walker JR, Schellhorn HE, Zhu XD, The Winged Helix Domain of CSB Regulates RNAPII Occupancy at Promoter Proximal Pause Sites International journal of molecular sciences22:101206 2021 |
| PubMed ID: 33806087 |
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| Feng E, Batenburg NL, Walker JR, Ho A, Mitchell TRH, Qin J, Zhu XD, CSB cooperates with SMARCAL1 to maintain telomere stability in ALT cells Journal of cell science22:101206 2019 |
| PubMed ID: 31974116 |
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| Kitsera N, Rodriguez-Alvarez M, Emmert S, Carell T, Khobta A, Nucleotide excision repair of abasic DNA lesions Nucleic acids research22:101206 2019 |
| PubMed ID: 31226203 |
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| Kitsera N, Gasteiger K, Lühnsdorf B, Allgayer J, Epe B, Carell T, Khobta A, Cockayne syndrome: varied requirement of transcription-coupled nucleotide excision repair for the removal of three structurally different adducts from transcribed DNA PloS one9:e94405 2014 |
| PubMed ID: 24713864 |
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| 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 |
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| Khobta A1, Lingg T, Schulz I, Warken D, Kitsera N, Epe B., Mouse CSB protein is important for gene expression in the presence of a single-strand break in the non-transcribed DNA strand. DNA Repair (Amst)9(9):985-93 2010 |
| PubMed ID: 20674513 |
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| 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 |
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| Troelstra C, Odijk H, de Wit J, Westerveld A, Thompson LH, Bootsma D, Hoeijmakers JH, Molecular cloning of the human DNA excision repair gene ERCC-6. Mol Cell Biol10(11):5806-13 1990 |
| PubMed ID: 2172786 |
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| Venema J, Mullenders LH, Natarajan AT, van Zeeland AA, Mayne LV, The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA. Proc Natl Acad Sci U S A87(12):4707-11 1990 |
| PubMed ID: 2352945 |
| Cumulative PDL at Freeze |
55.5 |
| Split Ratio |
1:6 |
| 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 |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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