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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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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|
Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
|
White
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Ethnicity
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LITHUANIAN/ENGLISH/IRISH
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Family Member
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2
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|
Relation to Proband
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mother
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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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|
| Remarks |
Donor is a clinically unaffected mother of an affected son. |
| 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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