Description:
TRISOMY 21
NIA AGING CELL REPOSITORY DNA PANEL - DOWN SYNDROME
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Chromosome Abnormalities
Heritable Diseases |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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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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Clinical summary/Case history
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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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| 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 |
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| Remarks |
The donor was diagnosed as Down syndrome (trisomy 21). The family pedigree also contains three paternal cousins with Down's syndrome. The culture was initiated on 2/17/87 by transformation of lymphocytes with Epstein Barr virus. The karyotype is 47,XY,+21. The cells grow in suspension and their morphology is spherical. Unaffected members of this donor's family are AG09393, AG09392, AG09391, AG09390, AG09389, AG09388 and AG09387. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| Shi J, Tan P, Han D, Zhang R, Li J, Zhang R, Non-invasive prenatal screening for foetal trisomy: An assessment of reliability and reporting Clinical biochemistry100:71-77 2022 |
| PubMed ID: 34843730 |
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| Rava RP, Srinivasan A, Sehnert AJ, Bianchi DW, Circulating Fetal Cell-Free DNA Fractions Differ in Autosomal Aueuploidies and Monosomy X Clin Chem100:71-77 2013 |
| PubMed ID: 24046201 |
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