NG04645
DNA from Fibroblast
Description:
DYSKERATOSIS CONGENITA, X-LINKED; DKC
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Untransformed
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Sample Source
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DNA from Fibroblast
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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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ISCN
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46,XY
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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 |
4 |
| Passage Frozen |
8 |
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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 |
Donor is affected and presented with skin eruptions, nail dystrophy, esophageal abnormalities and anemia. Family history is negative. The biopsy was taken ante-mortem from a skin eruption (involved area). The culture was initiated on 2/21/81 using explants of minced tissue. The morphology is fibroblast-like. A fibroblast culture from uninvolved skin is AG04646. |
| 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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