Fragile X syndrome Collection

Fragile X syndrome (FXS) is a genetic disorder associated with developmental delay, cognitive impairment, seizures, reduced motor coordination and heightened anxiety. FXS is the most common form of inherited intellectual disability and is caused by a trinucleotide repeat expansion of the FMR1 gene on the X chromosome. This mutation results in the lack of the fragile X mental retardation protein (FMRP).  

This iPSC collection, deposited by Dr. Anita Bhattacharyya from the University of Wisconsin-Madison, serves as a model for the FMR1 gene mutation.  The collection consists of iPSC lines reprogrammed from fibroblasts of two young male donors who came from a well-characterized cohort representative of the range of affectedness typical for the syndrome. These iPSC lines allow for the study of neuronal deficits caused by FXS, as well as the function of FMRP in human neurons.  This collection also includes a control line.

The publication describing this collection of iPSC lines may be found here.

Cell Lines 4 Cell Lines
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Cell Line Cell Line Alias Cell Type Disease Genetic Alteration/Mutation Sex Age at Collection Ethnicity Genetically Related Cell Lines dbGaP Data
WC005i-FX11-7 FX11-7 Human iPS Fragile X syndrome  FMR1  Male 7 Years   No No
WC006i-FX11-9U FX11-9U Human iPS Fragile X premutation  FMR1  Male 7 Years   No No
WC007i-FX13-2 FX13-2 Human iPS Fragile X syndrome  FMR1  Male 8 Years   No No
WC008i-C603-4 C603-4 Human iPS None reported    Male 36 Years   No No
Cell Lines 4 Cell Lines
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