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NG05120 DNA from Fibroblast

Description:

TRISOMY 21
NIA AGING CELL REPOSITORY DNA PANEL - DOWN SYNDROME

Affected:

Yes

Sex:

Female

Age:

22 FW (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Images

Overview

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Repository NIA Aging Cell Culture Repository
Subcollection Chromosome Abnormalities
Heritable Diseases
Quantity 10 µg
Quantitation Method Please see our FAQ
Biopsy Source Umbilical cord
Cell Type Fibroblast
Tissue Type Umbilical Cord
Transformant Untransformed
Sample Source DNA from Fibroblast
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 47,XX,+21
Species Homo sapiens
Common Name Human
Remarks This culture was derived from minced umbilical cord tissue obtained from a therapeutically aborted fetus of 22 weeks gestational age. The karyotype is 47,XX,+21. The cell morphology is fibroblast-like. Culture was frozen at PDL 3. An amniotic fluid fibroblast culture established from same donor is AG05121. The legacy karyotype description shown in this Remark may not be representative of the current available product.

Characterizations

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PDL at Freeze 9
Passage Frozen 8
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Chromosome Analysis
 

Phenotypic Data

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Remarks This culture was derived from minced umbilical cord tissue obtained from a therapeutically aborted fetus of 22 weeks gestational age. The karyotype is 47,XX,+21. The cell morphology is fibroblast-like. Culture was frozen at PDL 3. An amniotic fluid fibroblast culture established from same donor is AG05121. The legacy karyotype description shown in this Remark may not be representative of the current available product.

Publications

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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

External Links

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dbSNP dbSNP ID: 10086
NCBI Gene Gene ID:1637
NCBI GTR 190685 DOWN SYNDROME
OMIM 190685 DOWN SYNDROME
Omim Description DOWN SYNDROME CRITICAL REGION; DSCR, INCLUDED
  DOWN SYNDROMEDOWN SYNDROME CHROMOSOME REGION; DCR, INCLUDED
  TRISOMY 21

Images

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View karyotype 
Pricing
Commercial:
$155.00USD
Academic &
Non-profit:
$72.00USD
NIA Grantees:
$62.00USD
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How to Order
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