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AG07096 Fibroblast from Skin, Thorax

Description:

TRISOMY 21

Affected:

Yes

Sex:

Male

Age:

5 MO (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • 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 White
Ethnicity PUERTO RICAN
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 47,XY,+21,9qh+
Species Homo sapiens
Common Name Human
Remarks The donor had typical features of Down's syndrome (trisomy 21). The skin biopsy was taken post-mortem on 10/13/83. The culture was initiated using explants of minced skin tissue. The karyotype is 47,XY,+21,9qh+. The cell morphology is fibroblast-like. 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
Passage Frozen 2
 
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's syndrome (trisomy 21). The skin biopsy was taken post-mortem on 10/13/83. The culture was initiated using explants of minced skin tissue. The karyotype is 47,XY,+21,9qh+. The cell morphology is fibroblast-like. The legacy karyotype description shown in this Remark may not be representative of the current available product.

Publications

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Panagaki T, Pecze L, Randi EB, Nieminen AI, Szabo C, Role of the cystathionine ß-synthase / H Redox biology55:102416 2022
PubMed ID: 35921774
 
Panagaki T, Randi EB, Szabo C, Role of 3-Mercaptopyruvate Sulfurtransferase in the Regulation of Proliferation and Cellular Bioenergetics in Human Down Syndrome Fibroblasts Biomolecules10:102416 2020
PubMed ID: 32340322
 
Bordi M, Darji S, Sato Y, Mellén M, Berg MJ, Kumar A, Jiang Y, Nixon RA, mTOR hyperactivation in Down Syndrome underlies deficits in autophagy induction, autophagosome formation, and mitophagy Cell death & disease10:563 2019
PubMed ID: 31332166
 
Jiang Y, Sato Y, Im E, Berg M, Bordi M, Darji S, Kumar A, Mohan PS, Bandyopadhyay U, Diaz A, Cuervo AM, Nixon RA, Lysosomal Dysfunction in Down Syndrome Is APP-Dependent and Mediated by APP-ßCTF (C99) The Journal of neuroscience : the official journal of the Society for Neuroscience39:5255-5268 2019
PubMed ID: 31043483
 
Gonzalez C, Armijo E, Bravo-Alegria J, Becerra-Calixto A, Mays CE, Soto C, Modeling amyloid beta and tau pathology in human cerebral organoids Molecular psychiatry39:5255-5268 2017
PubMed ID: 30171212
 
Flickinger KS, Carter WG, Culp LA, Deficiency in integrin-mediated transmembrane signaling and microfilament stress fiber formation by aging dermal fibroblasts from normal and Down's syndrome patients. Exp Cell Res203:466-75 1992
PubMed ID: 1459206
 
Flickinger KS, Culp LA, Dermal fibroblasts from Down's syndrome patients share a cycloheximide- induced deficiency in collagen adhesion responses with normal aging cells. Exp Cell Res189:189-201 1990
PubMed ID: 2142462

External Links

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dbSNP dbSNP ID: 10130
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

Culture Protocols

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Cumulative PDL at Freeze 6
Passage Frozen 2
Split Ratio 1:5
Temperature 37 C
Percent CO2 5%
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
Substrate None specified
Subcultivation Method trypsin-EDTA
Supplement -
Pricing
Commercial:
$257.00USD
Academic &
Non-profit:
$103.00USD
NIA Grantees:
$47.00USD
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How to Order
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