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Series GSE13828 Query DataSets for GSE13828
Status Public on Dec 21, 2008
Title Induced pluripotent stem cells from a spinal muscular atrophy patient
Organism Homo sapiens
Experiment type Expression profiling by array
Summary Spinal muscular atrophy (SMA) is one of the most common inherited forms of neurological disease leading to infant mortality. Patients exhibit selective loss of lower motor neurons resulting in muscle weakness, paralysis, and often death. Although patient fibroblasts have been used extensively to study SMA, motor neurons have a unique anatomy and physiology which may underlie their vulnerability to the disease process. Here we report the generation of induced pluripotent stem (iPS) cells from skin fibroblast samples taken from a child with SMA. These cells expanded robustly in culture, maintained the disease genotype, and generated motor neurons that showed selective deficits compared to those derived from the child’s unaffected mother. This is the first study to show human iPS cells can be used to model the specific pathology seen in a genetically inherited disease. As such, it represents a promising resource to study disease mechanisms, screen novel drug compounds, and develop new therapies.

Keywords: Affimetrix global gene expression for comparison on all 10 samples
 
Overall design A total of 10 samples were hybridized to the human genome U133 Plus 2.0 GeneChip arrays carrying 54,675 probe sets (Affimetrix).

H1L, H7, H9, H13B, and H14A embryonic stem cells are controls for the iPS cells

iPS(SMA) 3.5 and iPS(SMA)3.6 are from the patient. The clone iPS(SMA) 4.2. is from the parent.
 
Contributor(s) Ebert AD, Yu J, Rose FF, Mathis VB, Lorson CL, Thomson JA, Svendsen CN
Citation(s) 19098894
Submission date Dec 04, 2008
Last update date Mar 25, 2019
Contact name Victor Ruotti
E-mail ruotti@wisc.edu
Phone 608-890-0182
Fax 608-890-0167
Organization name UW Madison
Department Biotechnology
Lab Thomson's Lab
Street address 425 Henry Mall
City Madison
State/province WI
ZIP/Postal code 53706
Country USA
 
Platforms (1)
GPL570 [HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array
Samples (10)
GSM347916 iPS SMA 3.5
GSM347917 iPS SMA 3.6
GSM347918 iPS SMA 4.2
Relations
BioProject PRJNA110501

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE13828_RAW.tar 48.0 Mb (http)(custom) TAR (of CEL)
Raw data provided as supplementary file
Processed data included within Sample table

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