RSRT

Rett Syndrome Research Trust

iPSC Collection

The Rett Syndrome Research Trust (RSRT) is a non-profit organization dedicated to curing Rett syndrome and is offering a new collection of induced pluripotent stem cells (iPSCs) for use in research. RSRT funded a study that collected blood and tissue from individuals with Rett syndrome in order to generate a stem cell resource that facilitates research and can lead to a cure. Induced pluripotent stem cells are an important tool for Rett syndrome research because they can be re-programmed into neurons or other types of brain cells, allowing therapeutics to be developed and tested in the most relevant human cell types for Rett. 

Mutant and isogenic wild-type iPSCs in this collection were generated from blood lymphocytes , except for c.62+1delGT (derived from a fibroblast), and clonally isolated. Quality control measures ensure stable X inactivation prior to cryopreservation.

These resources are available to vetted academic, nonprofit, and for-profit organizations. 

iPSC Collection

ID

Mutation (protein)

Mutation (DNA)

Isogenic Control Available

Sex

2051

p.R106W

c.C316T

Yes

F

2036

p.R133C

c.C397T

Yes

F

2037

p.T158M

c.C473T

Yes

F

2042

p.R255X

c.C763T

Yes

F

2043 p.R270X c.C808T Yes F
2045 p.R294X c.C880T Yes F
2047

p.R306C

c.C916T

Yes

F

2052 ---
c.62+1delGT Yes F

About Rett Syndrome

Rett syndrome is a rare, neurological disorder that presents itself in children, mostly girls, from 6 to 18 months old. Early signs of the disease include loss of speech and hand use, and other neurological functions. Rett syndrome results from mutations in the MECP2 gene, a gene critical to the production of a protein needed for brain function.

How to Order

To access these lines, please email RSRT at info@rsrt.org. A Material Transfer Agreement with RSRT and a brief description of research intent is required.

Additional Information and Resources

Information regarding iPSC derivation, maintenance, neuronal differentiation, or confirmation of X inactivation status, can be obtained from RSRT.

Matched fibroblast lines are also available and can be obtained from RSRT at info@rsrt.org.

RSRT website: www.reverserett.org

For other resources, please visit Addgene's Rett Syndrome Plasmids and Resources.