NA09286
DNA from Fibroblast
Description:
ANEUPLOID CHROMOSOME NUMBER - TRISOMY 9
ANEUPLOID CHROMOSOME NUMBER - TRISOMY
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
| 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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Black/African American
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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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Karyotypic analysis after cell line submission to CCR
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ISCN
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47,XY,+9
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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 Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 9: ANEUPLOID Aneuploid Segment (+)9pter>9qter |
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Chromosome 9: ANEUPLOID Trisomic Segment 9pter>9qter |
| Remarks |
Skin biopsy; protuberant nose and mouth; low set ears; immature placenta with a bivascular umbilical cord |
| Akutsu SN, Miyamoto T, Oba D, Tomioka K, Ochiai H, Ohashi H, Matsuura S, iPSC reprogramming-mediated aneuploidy correction in autosomal trisomy syndromes PloS one17:e0264965 2021 |
| PubMed ID: 35271616 |
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| Treff NR, Zimmerman R, Bechor E, Hsu J, Rana B, Jensen J, Li J, Samoilenko A, Mowrey W, Van Alstine J, Leondires M, Miller K, Paganetti E, Lello L, Avery S, Hsu S, Melchior Tellier LCA, Validation of concurrent preimplantation genetic testing for polygenic and monogenic disorders, structural rearrangements, and whole and segmental chromosome aneuploidy with a single universal platform European journal of medical genetics62:103647 2019 |
| PubMed ID: 31026593 |
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| Treff NR, Tao X, Ferry KM, Su J, Taylor D, Scott RT, Development and validation of an accurate quantitative real-time polymerase chain reaction-based assay for human blastocyst comprehensive chromosomal aneuploidy screening Fertility and sterility97:819-824.e2 2011 |
| PubMed ID: 22342859 |
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| Treff NR, Su J, Tao X, Levy B, Scott RT, Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide polymorphism microarrays Fertility and sterility94:2017-21 2009 |
| PubMed ID: 20188357 |
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| Ensminger AW, Chess A, Coordinated replication timing of monoallelically expressed genes along human autosomes. Hum Mol Genet13(6):651-8 2004 |
| PubMed ID: 14734625 |
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