GM16095
Fibroblast from Skin, Unspecified
Description:
COCKAYNE SYNDROME, TYPE B; CSB
EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6
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 |
Biopsy Source
|
Unspecified
|
Cell Type
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Fibroblast
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Tissue Type
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Skin
|
Transformant
|
pSV3gpt
|
Sample Source
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Fibroblast from Skin, Unspecified
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Race
|
White
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Family Member
|
1
|
Relation to Proband
|
proband
|
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
|
|
PDL at Freeze |
5.9 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
|
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)] |
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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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 sciences22:8436 2021 |
PubMed ID: 33806087 |
|
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 science22:8436 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 research22:8436 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 |
|
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 |
|
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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