Background
Achondroplasia (ACH) is the most common genetic form of dwarfism and belongs to dominant monogenic disorder caused by a gain-of-function point mutation in the transmembrane region of FGFR3. There are no effective treatments for ACH. Stem cells and gene-editing technology provide us with effective
Conclusions
This study may provide an important theoretical and experimental basis for the ACH research and treatment.
Methods
We generated non-integrated iPSCs from an ACH girl's skin and an ACH boy's urine by Sendai virus. The mutation of ACH iPSCs was precisely corrected by CRISPR-Cas9.
Results
Chondrogenic differentiation ability of ACH iPSCs was confined compared with that of healthy iPSCs. Chondrogenic differentiation ability of corrected ACH iPSCs could be restored. These corrected iPSCs displayed pluripotency, maintained normal karyotype, and demonstrated none of off-target indels. Conclusions: This study may provide an important theoretical and experimental basis for the ACH research and treatment.