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Accession: PRJNA128015 ID: 128015

Homo sapiens (human)

Friedreich’s Ataxia Induced Pluripotent Stem Cells Recapitulate GAA•TTC Triplet-Repeat Instability

See Genome Information for Homo sapiens
The inherited neurodegenerative disease Friedreich’s ataxia (FRDA) is caused by hyperexpansion of GAA•TTC trinucleotide repeats within the first intron of the FXN gene, encoding the mitochondrial protein frataxin. More...
AccessionPRJNA128015; GEO: GSE22651
Data TypeTranscriptome or Gene expression
ScopeMultiisolate
OrganismHomo sapiens[Taxonomy ID: 9606]
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo; Homo sapiens
PublicationsKu S et al., "Friedreich's ataxia induced pluripotent stem cells model intergenerational GAA⋅TTC triplet repeat instability.", Cell Stem Cell, 2010 Nov 5;7(5):631-7
SubmissionRegistration date: 30-Jun-2010
JEANNE LORING, CHEMICAL PHYSIOLOGY, THE SCRIPPS RESEARCH INSTITUTE
RelevanceMedical
Project Data:
Resource NameNumber
of Links
Publications
PubMed1
PMC1
Other datasets
GEO DataSets1
GEO Data Details
ParameterValue
Data volume, Spots3171090
Data volume, Processed Mbytes128
Data volume, Supplementary Mbytes38

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