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.