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).

Bhattacharyya (iPSC Lines)
These iPSC lines, deposited by Dr. Anita Bhattacharyya from the University of Wisconsin-Madison, consist of cell lines reprogrammed from fibroblasts of three young male donors 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 premutation cell line. 

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

Bhattacharyya & Zhao (Modified ESC Lines)
These modified ESC lines, deposited by Dr. Anita Bhattacharyya and Dr. Xinyu Zhao from the University of Wisconsin-Madison, consist of cell lines genetically engineered from WA01 (H1). The collection includes isogenic FMR1 knockout hPSC lines and FMR1-FLAG hPSCs.  

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

Cell Lines 9 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
H1-FMR1-FLAG   Modified Human ES None reported  FMR1-FLAG  Male     No No
H1-FMR1-KO   Modified Human ES None reported  FMR1 Knockout  Male     No No
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
WC051i-FX08-23 FX08-1 Human iPS Autism, Fragile X syndrome  FMR1  Male 11 Years   No No
WC052i-FX08-24 FX08-1 Human iPS Autism, Fragile X syndrome  FMR1  Male 11 Years   No No
WC053i-FX08-25 FX08-1 Human iPS Fragile X syndrome, Autism  FMR1  Male 11 Years   No No
Cell Lines 9 Cell Lines
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