NA00321
DNA from Fibroblast
Description:
XXXY AND XXXXY SYNDROME
ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Apparently Healthy Collection |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Arm
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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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Ethnicity
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Sardinian
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Country of Origin
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USA
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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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Karyotypic analysis and Case history
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ISCN
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46,XX,der(2)t(2;2)(2qter->2q13::2p25->2qter)[7]/46,XX[9].arr(1-22,X)x2
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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 |
5.2 |
| Passage Frozen |
5 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Remarks |
Unaffected mother of affected child (GM00326) and unaffected child (GM00323); normal RBC G6PD level; Xg(a) antigen positive; initial karyotype analysis reveals subject is 46,XX with random chromosome losses seen in 12% of cells, random chromosome gains seen in 2% of cells, and random chromosome aberrations seen in 2% of cells; |
| Alowaysi M, Fiacco E, Astro V, Adamo A, Establishment of iPSC lines from a high-grade Klinefelter Syndrome patient (49-XXXXY) and two genetically matched healthy relatives (KAUSTi003-A, KAUSTi004-A, KAUSTi004-B, KAUSTi005-A, KAUSTi005-B, KAUSTi005-C) Stem cell research49:102008 2020 |
| PubMed ID: 32987351 |
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| Zhou K, Dichlberger A, Ikonen E, Blom T, Lysosome Associated Protein Transmembrane 4B (LAPTM4B)-24 is the predominant protein isoform in human tissues and undergoes rapid, nutrient-regulated turnover The American journal of pathology49:102008 2020 |
| PubMed ID: 32679228 |
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| Al-Saaidi RA1, Rasmussen TB2, Birkler RID1, Palmfeldt J1, Beqqali A3, Pinto YM4, Nissen PH5, Baandrup U6, Mølgaard H2, Hey TM7, Eiskjaer H2, Bross P1, Mogensen J7., The clinical outcome of LMNA missense mutations appears to be associated with the amount of mutated protein in the nuclear envelope. European Journal of Heart Failure
49:102008 2018 |
| PubMed ID: 29943882 |
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| Visentin S, De Nuccio C, Bernardo A, Pepponi R, Ferrante A, Minghetti L, Popoli P, The stimulation of adenosine A2A receptors ameliorates the pathological phenotype of fibroblasts from Niemann-Pick type C patients The Journal of neuroscience : the official journal of the Society for Neuroscience33:15388-93 2013 |
| PubMed ID: 24068806 |
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| Artlett CM1, Sassi-Gaha S, Rieger JL, Boesteanu AC, Feghali-Bostwick CA, Katsikis PD., The inflammasome activating caspase 1 mediates fibrosis and myofibroblast differentiation in systemic sclerosis. Arthritis Rheum63(11):3563-74 2011 |
| PubMed ID: 21792841 |
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| Loughlin DT1, Artlett CM., Modification of collagen by 3-deoxyglucosone alters wound healing through differential regulation of p38 MAP kinase. PLoS One6(5):3563-74 2011 |
| PubMed ID: 21573155 |
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| Treff NR, Su J, Tao X, Northrop LE, Scott RT, Single-cell whole-genome amplification technique impacts the accuracy of SNP microarray-based genotyping and copy number analyses Molecular human reproduction17:335-43 2010 |
| PubMed ID: 21177337 |
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| O'Leary DA, Vargas L, Sharif O, Garcia ME, Sigal YJ, Chow SK, Schmedt C, Caldwell JS, Brinker A, Engels IH, HTS-Compatible Patient-Derived Cell-Based Assay to Identify Small Molecule Modulators of Aberrant Splicing in Myotonic Dystrophy Type 1 Current chemical genomics4:9-18 2009 |
| PubMed ID: 20502647 |
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| Sassi-Gaha S, Loughlin DT, Kappler F, Schwartz ML, Su B, Tobia AM, Artlett CM, Two dicarbonyl compounds, 3-deoxyglucosone and methylglyoxal, differentially modulate dermal fibroblasts Matrix biology : journal of the International Society for Matrix Biology29:127-34 2009 |
| PubMed ID: 19800404 |
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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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| Abdullah, K.M., Abdullah, A., Johnson, M.L., Bilski, J.J., Petry, K., Redmer, D.A., Reynolds, L.P., and Grazul-Bilska, A.T., Effects of Aloe vera on Gap Junctional Intercellular Communication and Proliferation of Human Diabetic and Nondiabetic Skin Fibroblasts J Alternative and Complementary Med9(5):711-718 2003 |
| PubMed ID: 14629848 |
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| Oliver CN, Ahn BW, Moerman EJ, Goldstein S, Stadtman ER, Age-related changes in oxidized proteins. J Biol Chem262:5488-91 1987 |
| PubMed ID: 3571220 |
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| Goldman D, Goldin LR, Rathnagiri P, O'Brien SJ, Egeland JA, Merril CR, Twenty-seven protein polymorphisms by two-dimensional electrophoresis of serum, erythrocytes, and fibroblasts in two pedigrees. Am J Hum Genet37:898-911 1985 |
| PubMed ID: 3863481 |
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