Friedreich's Ataxia Skin Fibroblast Cell Lines

Skin fibroblast cell lines isolated and cultured from patient with Friedriech's ataxia.

Highlights

  • Skin fibroblasts isolated and cultured from patient with Friedriech's ataxia
  • Cell line 4230 has long GAA repeats on both alleles of the FXN gene (GAA1 ~870 repeats, GAA2 ~1470 repeats); FXN mRNA expression is 15-22% of average FXN mRNA levels in control cells
  • Cell line 4654 has shorter GAA repeats on both alleles of the FXN gene (GAA1 ~190 repeats, GAA2 ~500 repeats); FXN mRNA expression is 35-51% of average FXN mRNA levels in control cells

Friedreich's ataxia (FRDA) represents a rare neurodegenerative disease caused by expansion of GAA trinucleotide repeats in the first intron of the FXN gene. The number of GAA repeats in FRDA patients varies from approximately 60 to <1000 and is tightly correlated with age of onset and severity of the disease symptoms.

From the laboratories of David R. Lynch, MD, PhD, Children's Hospital of Philadelphia and Marek Napierala, PhD, University of Alabama at Birmingham.

Catalog Number Product Size AVAILABILITY Price Qty
ECP001
Friedreich's Ataxia Skin Fibroblast Cell Line (4230, FXN high mutation), 1 vial
1 vial 1-2 weeks
Price: $599.00
ECP002
Friedreich's Ataxia Skin Fibroblast Cell Line (4654, FXN low mutation), 1 vial
1 vial 1-2 weeks
Price: $599.00
Specifications
Cell Type: Fibroblast
Organism: Human
Morphology: Monolayer
Biosafety Level: 2
Subculturing: 1:4 recommended with 0.25% trypsin
Growth Conditions: DMEM high glucose, 15% FBS, 1% NEAA, 4 mM glutamine (penicillin and streptomycin optional)
Cryopreservation: 50% FBS, 40% growth media with 10% DMSO
Source: Skin
Storage: Liquid nitrogen
Shipped: Dry Ice
Provider
From the laboratoratories of David R. Lynch, MD, PhD, Children's Hospital of Philadelphia and Marek Napierala, PhD, University of Alabama at Birmingham.
Comments

Cell line 4230 - Contains long expanded GAA repeats on both alleles of the FXN gene: GAA1 ~870 repeats, GAA2 ~1470 repeats. Low level of FXN mRNA expression, 15 – 22% (depending on the assay used) of average FXN mRNA levels in control cells.

Cell line 4654 - Contains short expanded GAA repeats on both alleles of the FXN gene: GAA1 ~190 repeats, GAA2 ~500 repeats. Moderate/high level of FXN mRNA expression, 35 – 51% (depending on the assay used) of average FXN mRNA levels in control cells.

References
  1. Li Y, Polak U, Clark AD, Bhalla AD, Chen YY, Li J, Farmer J, Seyer L, Lynch D, Butler JS, Napierala M. Establishment and Maintenance of Primary Fibroblast Repositories for Rare Diseases-Friedreich's Ataxia Example. Biopreserv Biobank. 2016 Aug;14(4):324-9. doi: 10.1089/bio.2015.0117.

If you publish research with this product, please let us know so we can cite your paper.

 
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