NA04592
DNA from Fibroblast
Description:
TRISOMY 21
ANEUPLOID CHROMOSOME NUMBER - TRISOMY
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| 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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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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47,XX,+21[19]
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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 |
4.74 |
| Passage Frozen |
5 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 21: ANEUPLOID Aneuploid Segment (+)21pter>21qter |
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Chromosome 21: ANEUPLOID Aneuploid Segment (+)21pter->21qter |
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Chromosome 21: ANEUPLOID Trisomic Segment 21pter>21qter |
| Remarks |
Clinical features of Down syndrome |
| García-Pascual CM, Navarro-Sánchez L, Navarro R, Martínez L, Jiménez J, Rodrigo L, Simón C, Rubio C, Optimized NGS Approach for Detection of Aneuploidies and Mosaicism in PGT-A and Imbalances in PGT-SR Genes11: 2020 |
| PubMed ID: 32610655 |
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| Hwang S, Williams JF, Kneissig M, Lioudyno M, Rivera I, Helguera P, Busciglio J, Storchova Z, King MC, Torres EM, Suppressing Aneuploidy-Associated Phenotypes Improves the Fitness of Trisomy 21 Cells Cell reports29:2473-2488.e5 2019 |
| PubMed ID: 31747614 |
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| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
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| Hards RG, Patterson D, Variation of glycinamide ribonucleotide synthetase levels during in vitro aging of human fibroblasts: implications for gene dosage studies. Mech Ageing Dev36:65-70 1986 |
| PubMed ID: 3762234 |
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