Derivation of hESC Lines with Disease Lesions

Derivation of hESC Lines with Disease Lesions

Funding Type: 
New Cell Lines
Grant Number: 
RL1-00630
Award Value: 
$1,404,725
Disease Focus: 
Genetic Disorder
Stem Cell Use: 
Embryonic Stem Cell
Cell Line Generation: 
Embryonic Stem Cell
Status: 
Closed
Public Abstract: 
Statement of Benefit to California: 
Progress Report: 

Year 1

During this granting period we have established a nationwide embryo donation bank to procure blastocysts with disease mutations. Beginning August 2009 we have been actively consenting, transporting and plating embryos with disease mutations with the goal of deriving hESCs as models for human disorders.

Year 2

Our goal is to develop human embryonic stem cell lines as models for disease. Over the course of this grant we have consented embryos from patients across the United States. These embryos were diagnosed with many different types of diseases, including retinoblastoma, cystic fibrosis, muscular dystrophy and Fragile X. To optimize the creation of these disease models, we have developed new methods both to obtain embryos over long distances to ensure survival and have increased our human embryonic stem cell derivation frequency from 10 to 30%. Over the next year, we expect to derive stem cell lines from many different diseases to be studied as important in vitro models.

Year 3

Our goal is to develop human embryonic stem cell lines as models for disease. Over the course of this grant we have consented embryos from patients across the United States. These embryos were diagnosed with many different diseases, including retinoblastoma, cystic fibrosis, muscular dystrophy and Fragile X. To optimize the creation of these disease models, we have developed new techniques to increase our ES derivation frequency. We expect to continue these efforts in order to develop hESC models for diseases.

Year 4

During the 6 months of the no cost extension (NCX), we collected four embryos containing lesions for two separate diseases. From these, we have developed a hESC line containing a mutation in Foxp3. This lesion is found in patients with X-linked IPEX syndrome.

© 2013 California Institute for Regenerative Medicine