GM16094
Fibroblast from Skin, Unspecified
Description:
COCKAYNE SYNDROME, TYPE A; CSA
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 |
Class |
Repair Defective and Chromosomal Instability Syndromes |
Biopsy Source
|
Unspecified
|
Cell Type
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Fibroblast
|
Tissue Type
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Skin
|
Transformant
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pSV3gpt
|
Sample Source
|
Fibroblast from Skin, Unspecified
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Race
|
White
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
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Species
|
Homo sapiens
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Common Name
|
Human
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Remarks
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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 |
|
Remarks |
Line CS3BEs3gl; SV40 (pSV3gpt) transformed GM01856; fibroblasts have markedly decreased post UV light colony-forming ability; same x-ray sensitivity as normal cells; see GM01857A Lymphoid; complementation group A |
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 research: 2023 |
PubMed ID: 37026475 |
|
Kitsera N, Rodriguez-Alvarez M, Emmert S, Carell T, Khobta A, Nucleotide excision repair of abasic DNA lesions Nucleic acids research: 2019 |
PubMed ID: 31226203 |
|
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 |
|
Henning KA, Li L, Iyer N, McDaniel LD, Reagan MS, Legerski R, Schultz RA, Stefanini M, Lehmann AR, Mayne LV, et al, The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. Cell82:555-64 1995 |
PubMed ID: 7664335 |
Split Ratio |
1:3 |
Temperature |
37 C |
Percent CO2 |
5% |
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 |
Subcultivation Method |
trypsin-EDTA |
Supplement |
- |
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