Skin fibroblast cell lines isolated and cultured from patient with Friedriech's ataxia.
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.
|Product Type:||Cell Line|
|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|
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.
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