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.
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 | DataSheet | Size | AVAILABILITY | Price | Qty |
|---|
| Product Type: | Cell Line |
| Cell Type: | Fibroblast |
| Organism: | Human |
| Morphology: | Monolayer |
| Source: | Skin |
| 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 |
| Storage: | Liquid nitrogen |
| Shipped: | Dry Ice |
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.
- 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.
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