Description:
DYSKERATOSIS CONGENITA, X-LINKED; DKC
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Family Member
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3
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Relation to Proband
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maternal great grandmother
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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 |
8.21 |
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Possible carrier; affected son and greatgrandson |
| Pintado-Berninches L, Fernandez-Varas B, Benitez-Buelga C, Manguan-Garcia C, Serrano-Benitez A, Iarriccio L, Carrillo J, Guenechea G, Egusquiaguirre SP, Pedraz JL, Hernández RM, Igartua M, Arias-Salgado EG, Cortés-Ledesma F, Sastre L, Perona R, GSE4 peptide suppresses oxidative and telomere deficiencies in ataxia telangiectasia patient cells Cell death and differentiation: 2018 |
| PubMed ID: 30670828 |
| |
| Taoka M, Nobe Y, Yamaki Y, Sato K, Ishikawa H, Izumikawa K, Yamauchi Y, Hirota K, Nakayama H, Takahashi N, Isobe T, Landscape of the complete RNA chemical modifications in the human 80S ribosome Nucleic acids research46:9289-9298 2018 |
| PubMed ID: 30202881 |
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| Wong JM, Collins K, Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita Genes & development20:2848-58 2006 |
| PubMed ID: 17015423 |
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| Wong JM, Kusdra L, Collins K, Subnuclear shuttling of human telomerase induced by transformation and DNA
damage. Nat Cell Biol4(9):731-6 2002 |
| PubMed ID: 12198499 |
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| Mitchell JR, Wood E, Collins K, A telomerase component is defective in the human disease dyskeratosis congenita. Nature402(6761):551-5 1999 |
| PubMed ID: 10591218 |
| Passage Frozen |
6 |
| Split Ratio |
1:4 |
| 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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