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 |
| Class |
Other Disorders of Known Biochemistry |
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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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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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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 |
3.99 |
| Passage Frozen |
7 |
| |
| 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 21: ANEUPLOID Aneuploid Segment (+)21pter>21qter |
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Chromosome 21: ANEUPLOID Trisomic Segment 21pter>21qter |
| Remarks |
Clinical features of Down syndrome |
| Jin M, Ma Z, Jiang P, Generation of iPSC-based human-mouse microglial brain chimeras to study senescence of human microglia STAR protocols3:101847 2022 |
| PubMed ID: 36595906 |
| |
| Malle L, Martin-Fernandez M, Buta S, Richardson A, Bush D, Bogunovic D, Excessive negative regulation of type I interferon disrupts viral control in individuals with Down syndrome Immunity55:2074-2084.e5 2022 |
| PubMed ID: 36243008 |
| |
| Panagaki T, Pecze L, Randi EB, Nieminen AI, Szabo C, Role of the cystathionine ß-synthase / H Redox biology55:102416 2022 |
| PubMed ID: 35921774 |
| |
| 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 |
| |
| 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 |
| |
| Kim SY, Lee SM, Kim SM, Kim BJ, Koo JN, Oh IH, Oh S, Park CW, Jun JK, Lim JH, Ryu HM, Park JS, Novel method of real-time PCR-based screening for common fetal trisomies BMC medical genomics14:195 2020 |
| PubMed ID: 34330281 |
| |
| Meharena HS, Marco A, Dileep V, Lockshin ER, Akatsu GY, Mullahoo J, Watson LA, Ko T, Guerin LN, Abdurrob F, Rengarajan S, Papanastasiou M, Jaffe JD, Tsai LH, Down-syndrome-induced senescence disrupts the nuclear architecture of neural progenitors Cell stem cell29:116-130.e7 2020 |
| PubMed ID: 34995493 |
| |
| Panagaki T, Randi EB, Szabo C, Role of 3-Mercaptopyruvate Sulfurtransferase in the Regulation of Proliferation and Cellular Bioenergetics in Human Down Syndrome Fibroblasts Biomolecules10:116-130.e7 2020 |
| PubMed ID: 32340322 |
| |
| 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 |
| |
| Tšuiko O1, Zhigalina DI2, Jatsenko T3, Skryabin NA4, Kanbekova OR5, Artyukhova VG6, Svetlakov AV6, Teearu K7, Trošin A8, Salumets A9, Kurg A7, Lebedev IN, Karyotype of the blastocoel fluid demonstrates low concordance with both trophectoderm and inner cell mass Fertility and Sterility109:1127-1134 2018 |
| PubMed ID: 29935648 |
| |
| Teder H, Koel M, Paluoja P, Jatsenko T, Rekker K, Laisk-Podar T, Kukuškina V, Velthut-Meikas A, Fjodorova O, Peters M, Kere J, Salumets A, Palta P, Krjutškov K, TAC-seq: targeted DNA and RNA sequencing for precise biomarker molecule counting NPJ genomic medicine3:34 2018 |
| PubMed ID: 30588329 |
| |
| Kinde I, Papadopoulos N, Kinzler KW, Vogelstein B, FAST-SeqS: a simple and efficient method for the detection of aneuploidy by massively parallel sequencing PloS one7:e41162 2012 |
| PubMed ID: 22815955 |
| Passage Frozen |
7 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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