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AG07438 Fibroblast from Skin, Thorax

Description:

TRISOMY 21
NIA AGING CELL REPOSITORY DNA PANEL - DOWN SYNDROME

Affected:

Yes

Sex:

Male

Age:

9 MO (At Sampling)

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

Overview

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Repository NIA Aging Cell Culture Repository
Subcollection Chromosome Abnormalities
Heritable Diseases
Biopsy Source Thorax
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Thorax
Race Black/African American
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks The donor was diagnosed as Down syndrome (trisomy 21) and displayed typical facies. The skin biopsy was taken post-mortem on 3/15/84 and frozen. The culture was initiated on 06/7/84 using explants of minced skin tissue. The cell morphology is fibroblast-like. The karyotype is 47,XY,+21. 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 1.68
Passage Frozen 5
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Chromosome Analysis
 

Phenotypic Data

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Remarks The donor was diagnosed as Down syndrome (trisomy 21) and displayed typical facies. The skin biopsy was taken post-mortem on 3/15/84 and frozen. The culture was initiated on 06/7/84 using explants of minced skin tissue. The cell morphology is fibroblast-like. The karyotype is 47,XY,+21. The legacy karyotype description shown in this Remark may not be representative of the current available product.

Publications

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Marentette JO, Anderson CC, Prutton KM, Jennings EQ, Rauniyar AK, Galligan JJ, Roede JR, Trisomy 21 impairs PGE2 production in dermal fibroblasts Prostaglandins & other lipid mediators153:106524 2020
PubMed ID: 33418267
 
Chen JY, Lin JR, Tsai FC, Meyer T., Dosage of Dyrk1a Shifts Cells within a p21-Cyclin D1 Signaling Map to Control the Decision to Enter the Cell Cycle. Mol Cell.52(1):87-100 2013
PubMed ID: 24119401
 
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
 
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

External Links

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dbSNP dbSNP ID: 10145
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 
karyotype 

Culture Protocols

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Cumulative PDL at Freeze 5.62
Passage Frozen 5
Split Ratio 1:3
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 -
Pricing
Commercial:
$257.00USD
Academic &
Non-profit:
$103.00USD
NIA Grantees:
$47.00USD
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