Email updates

Keep up to date with the latest news and content from Stem Cell Research & Therapy and BioMed Central.

Open Access Highly Accessed Open Badges Research

Generation of disease-specific induced pluripotent stem cells from patients with different karyotypes of Down syndrome

Xiaoning Mou12, Yuanbo Wu36, Henghua Cao1, Qingzhang Meng1, Qihui Wang12, Chengchao Sun6, Shengshou Hu3, Yue Ma1* and Hao Zhang345*

Author Affiliations

1 National Laboratory of Biomacromolecules, Institute of Biophysics, Chinese Academy of Sciences, 15 Datun Road, Beijing 100101, China

2 Graduate University of the Chinese Academy of Sciences, 19 Yuquan Road, Beijing 100049, China

3 Key Laboratory for Cardiac Regeneration Medicine, Ministry of Health, Fuwai Hospital, 167 Belishi Road, Beijing 100037, China

4 State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, 167 Belishi Road, Beijing 100037, China

5 Department of Cardiac Surgery, Fuwai Hospital, Chinese Academy of Medical Sciences, 167 Belishi Road, Beijing 100037, China

6 Department of Thoracic and Cardiovascular Surgery, First Affiliated Hospital of Wenzhou Medical College, 2 Fuxue Lane, Wenzhou 325000, China

For all author emails, please log on.

Stem Cell Research & Therapy 2012, 3:14  doi:10.1186/scrt105

Published: 18 April 2012



Down syndrome (DS), a major cause of mental retardation, is caused by trisomy of some or all of human chromosome 21 and includes three basic karyotypes: trisomy 21, translocation, and mosaicism. The derivation of DS-specific induced pluripotent stem cells (iPSCs) provides us novel DS models that can be used to determine the DS mechanism and to devise therapeutic approaches for DS patients.


In the present study, fibroblasts from patients with DS of various karyotypes were reprogrammed into iPSCs via the overexpression of four factors: OCT4, SOX2, KLF4, and c-MYC, by using lentiviral vectors. The abilities of the iPSC-DS in the self-renewal and pluripotency in vitro and in vivo were then examined.


The iPSC-DS showed characteristics similar to those of human embryonic stem cells, particularly the morphology, surface marker (SSEA4, TRA-1-60, and TRA-1-81) expression, pluripotent-specific transcription-factor expression levels, and methylation status of the OCT4 promoter. The pluripotency of iPSC-DS was also tested in vitro and in vivo. Embryoid bodies were formed and showed the expression of differentiated markers for three germ layers. Furthermore, iPSC-DS formed classic teratomas when injected into nonobese diabetic-severe combined immunodeficient (NOD-SCID) mice.


iPSCs were generated from patients with DS. The iPSCs derived from different types of DS may be used in DS modeling, patient-care optimization, drug discovery, and eventually, autologous cell-replacement therapies.