NA02058
DNA from Fibroblast
Description:
TRISOMY 21
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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Race
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White
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Ethnicity
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ASHKENAZI
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XX,i(21)(qter>q10::q10>qter)[13]/46,XX[87]
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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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| Passage Frozen |
5 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Remarks |
87%/13% at passage 8; Down syndrome phenotype; both parents have normal karyotypes |
| Krivega M, Stiefel CM, Karbassi S, Andersen LL, Chunduri NK, Donnelly N, Pichlmair A, Storchová Z, Genotoxic stress in constitutive trisomies induces autophagy and the innate immune response via the cGAS-STING pathway Communications biology4:831 2021 |
| PubMed ID: 34215848 |
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