NG13901
DNA from Fibroblast
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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Skin
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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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Other
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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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ISCN
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47,XX,+21
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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 |
| Passage Frozen |
1 |
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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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| Gene |
APOE |
| Chromosomal Location |
19q13.2 |
| Allelic Variant 1 |
107741.0015; APOE3 ISOFORM |
| Identified Mutation |
CYS112 AND ARG158; Weisgraber et al. [J. Biol. Chem. 256: 9077-9083 (1981)] and Rall et al. [Proc. Nat. Acad. Sci. 79: 4696-4700 (1982)] identified one of the 3 major apolipoprotein E isoforms, apolipoprotein E3. The variant has Cys112 and Arg158. This is the most common variant, with frequencies of 40% to 90% in various populations. |
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| Gene |
APOE |
| Chromosomal Location |
19q13.2 |
| Allelic Variant 2 |
107741.0015; APOE3 ISOFORM |
| Identified Mutation |
CYS112 AND ARG158; Weisgraber et al. [J. Biol. Chem. 256: 9077-9083 (1981)] and Rall et al. [Proc. Nat. Acad. Sci. 79: 4696-4700 (1982)] identified one of the 3 major apolipoprotein E isoforms, apolipoprotein E3. The variant has Cys112 and Arg158. This is the most common variant, with frequencies of 40% to 90% in various populations. |
| Remarks |
This culture was derived from minced fetal skin tissue obtained from a therapeutically aborted fetus of 21 weeks gestational age. This fetus is of mixed race, one parent is black and the other is caucasian. The karyotype is 47,XX,+21 with 2% of the cells examined showing random chromosome loss and established the diagnosis of Down's syndrome. The cell morphology is fibroblast-like. A lung fibroblast culture from this same donor is AG13902. The APOE genotype of the donor subject is E3/E3. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
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