RSRT
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.
