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NG06872 DNA from Fibroblast

Description:

TRISOMY 21
NIA AGING CELL REPOSITORY DNA PANEL - DOWN SYNDROME

Affected:

Yes

Sex:

Female

Age:

1 YR (At Sampling)

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

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 Thorax/abdomen
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 47,XX,+21[17]
Species Homo sapiens
Common Name Human
Remarks The donor had typical features of Down syndrome (trisomy 21). The skin biopsy was taken post-mortem on 5/19/83. The culture was initiated using explants of minced skin tissue. The karyotype is 47,XX,+21. The cell morphology is fibroblast-like. Same subject as AG28278 (iPSC). 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 6.43
Passage Frozen 5
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Chromosome Analysis
 

Phenotypic Data

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Remarks The donor had typical features of Down syndrome (trisomy 21). The skin biopsy was taken post-mortem on 5/19/83. The culture was initiated using explants of minced skin tissue. The karyotype is 47,XX,+21. The cell morphology is fibroblast-like. Same subject as AG28278 (iPSC). The legacy karyotype description shown in this Remark may not be representative of the current available product.

Publications

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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
 
Ahmed AA1, Smoczer C1, Pace B1, Patterson D2,3, Cress Cabelof D1., Loss of DNA polymerase β induces cellular senescence Environmental and Molecular Mutagenesis 3:101847 2018
PubMed ID: 29968395
 
Deyle DR, Li LB, Ren G, Russell DW, The effects of polymorphisms on human gene targeting Nucleic Acids Res3:101847 2013
PubMed ID: 24371280
 
Malchenko S, Xie J, de Fatima Bonaldo M, Vanin EF, Bhattacharyya B, Galat V, Goossens W, Seftor RE, Crispino J, Miller R, Bohn MC, Hendrix MJ, Soares MB., Onset of rosette formation during spontaneous neural differentiation of hESC and hiPSC colonies. Gene(http://www.sciencedirect.com/science/article/pii/:101847 2013
PubMed ID: 23954875
 
Prandini P, Deutsch S, Lyle R, Gagnebin M, Vivier CD, Delorenzi M, Gehrig C, Descombes P, Sherman S, Bricarelli FD, Baldo C, Novelli A, Dallapiccola B, Antonarakis SE, Natural gene-expression variation in down syndrome modulates the outcome of gene-dosage imbalance American journal of human genetics81:252-63 2007
PubMed ID: 17668376
 
Li CM, Guo M, Salas M, Schupf N, Silverman W, Zigman WB, Husain S, Warburton D, Thaker H, Tycko B, Cell type-specific over-expression of chromosome 21 genes in fibroblasts and fetal hearts with trisomy 21 BMC medical genetics [electronic resource]7:24 2005
PubMed ID: 16539728

External Links

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dbSNP dbSNP ID: 10124
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
Pricing
Commercial:
$155.00USD
Academic &
Non-profit:
$72.00USD
NIA Grantees:
$62.00USD
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Same Subject
  • AG06872 - Fibroblast
  • AG28278 - Stem cell
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