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 |
|
Cell Type
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Fibroblast
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|
Transformant
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Untransformed
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|
Race
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White
|
|
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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48,XX,+21,+mar[18].arr(21)x3
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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 |
5.89 |
| |
| 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 |
|
Chromosome 21: ANEUPLOID Trisomic Segment 21pter>21qter |
| Remarks |
Down syndrome phenotype; 10 times more sensitive to A and B interferon (VSV virus) than normal diploid fibroblasts; equal sensitivity with EMC virus |
| Panagaki T, Pecze L, Randi EB, Nieminen AI, Szabo C, Role of the cystathionine ß-synthase / H Redox biology55:102416 2022 |
| PubMed ID: 35921774 |
| |
| 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 |
| |
| Panagaki T, Randi EB, Szabo C, Role of 3-Mercaptopyruvate Sulfurtransferase in the Regulation of Proliferation and Cellular Bioenergetics in Human Down Syndrome Fibroblasts Biomolecules10:195 2020 |
| PubMed ID: 32340322 |
| |
| 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 |
| |
| Crosti N, Bajer J, Serra A, Rigo A, Scarpa M, Viglino P, Coordinate expression of Mn-containing superoxide dismutase and Cu,Zn- containing superoxide dismutase in human fibroblasts with trisomy 21. J Cell Sci79:95-103 1985 |
| PubMed ID: 2939098 |
| |
| Sorbi S, Bird ED, Blass JP, Decreased pyruvate dehydrogenase complex activity in Huntington and Alzheimer brain. Ann Neurol13:72-8 1983 |
| PubMed ID: 6219611 |
| Split Ratio |
1:4 |
| 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 |
- |
|