GM15983
Fibroblast from Skin, Unspecified
Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
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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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Simian Virus 40
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Sample Source
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Fibroblast from Skin, Unspecified
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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 |
7.42 |
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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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| Remarks |
Line XP4PA-SV-EB; SV40-transformed fibroblast culture; complementation group C |
| Nasrallah NA, Lee B, Wiese BM, Karam MN, Mickler EA, Zhou H, Paolelli N, Stearman RS, Geraci MW, Sears CR, Cigarette Smoke and Decreased DNA Repair by Xeroderma Pigmentosum Group C Use a Double Hit Mechanism for Epithelial Cell Lung Carcinogenesis bioRxiv : the preprint server for biology: 2025 |
| PubMed ID: 40060594 |
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| Kobaisi F, Sulpice E, Nasrallah A, Obeïd P, Fayyad-Kazan H, Rachidi W, Gidrol X, Synthetic rescue of Xeroderma Pigmentosum C phenotype via PIK3C3 downregulation Cell death & disease15:847 2024 |
| PubMed ID: 39562566 |
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| 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 research15:847 2024 |
| PubMed ID: 38894680 |
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| Tan Y, Gao M, Huang Y, Zhan D, Wu S, An J, Zhang X, Hu J, STK19 is a transcription-coupled repair factor that participates in UVSSA ubiquitination and TFIIH loading Nucleic acids research52:12767-12783 2024 |
| PubMed ID: 39353615 |
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| Zhu Y, Zhang X, Gao M, Huang Y, Tan Y, Parnas A, Wu S, Zhan D, Adar S, Hu J, Coordination of transcription-coupled repair and repair-independent release of lesion-stalled RNA polymerase II Nature communications15:7089 2024 |
| PubMed ID: 39154022 |
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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 research15:7089 2023 |
| PubMed ID: 37026475 |
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| Zhu Y, Tan Y, Li L, Xiang Y, Huang Y, Zhang X, Yin J, Li J, Lan F, Qian M, Hu J, Genome-wide mapping of protein-DNA damage interaction by PADD-seq Nucleic acids research51:e32 2023 |
| PubMed ID: 36715337 |
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| Hung KF, Sidorova JM, Nghiem P, Kawasumi M, The 6-4 photoproduct is the trigger of UV-induced replication blockage and ATR activation Proceedings of the National Academy of Sciences of the United States of America51:e32 2020 |
| PubMed ID: 32444488 |
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| Kitsera N, Rodriguez-Alvarez M, Emmert S, Carell T, Khobta A, Nucleotide excision repair of abasic DNA lesions Nucleic acids research51:e32 2019 |
| PubMed ID: 31226203 |
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| Chiou YY, Hu J, Sancar A, Selby CP, RNA polymerase II is released from the DNA template during transcription-coupled repair in mammalian cells The Journal of biological chemistry51:e32 2017 |
| PubMed ID: 29282293 |
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| Shah P, Zhao B, Qiang L, He YY, Phosphorylation of xeroderma pigmentosum group C regulates ultraviolet-induced DNA damage repair Nucleic acids research46:5050-5060 2017 |
| PubMed ID: 29660033 |
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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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| Hu J, Choi JH, Gaddameedhi S, Kemp MG, Reardon JT, Sancar A, Nucleotide excision repair in human cells: fate of the excised oligonucleotide carrying DNA damage in vivo The Journal of biological chemistry288:20918-26 2013 |
| PubMed ID: 23749995 |
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| Enoiu M, Jiricny J, Schärer OD, Repair of cisplatin-induced DNA interstrand crosslinks by a replication-independent pathway involving transcription-coupled repair and translesion synthesis Nucleic acids research40:8953-64 2012 |
| PubMed ID: 22810206 |
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| Qiao B, Scott GB, Elliott F, Vaslin L, Bentley J, Hall J, Bishop DT, Knowles MA, Kiltie AE, Functional assays to determine the significance of two common XPC 3'UTR variants found in bladder cancer patients BMC medical genetics12:84 2011 |
| PubMed ID: 21689419 |
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| Wang QE, Zhu Q, Wani G, El-Mahdy MA, Li J, Wani AA, DNA repair factor XPC is modified by SUMO-1 and ubiquitin following UV irradiation Nucleic acids research33:4023-34 2005 |
| PubMed ID: 16030353 |
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| Emmert S, Kobayashi N, Khan SG, Kraemer KH, The xeroderma pigmentosum group C gene leads to selective repair of cyclobutane
pyrimidine dimers rather than 6-4 photoproducts. Proc Natl Acad Sci U S A.97(5):2151-6 2000 |
| PubMed ID: 10681431 |
| Split Ratio |
1:8 |
| Temperature |
37 C |
| Percent CO2 |
10% |
| Percent O2 |
AMBIENT |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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