%0 Journal Article
%T Generation of disease-specific induced pluripotent stem cells from patients with different karyotypes of Down syndrome
%A Xiaoning Mou
%A Yuanbo Wu
%A Henghua Cao
%A Qingzhang Meng
%A Qihui Wang
%A Chengchao Sun
%A Shengshou Hu
%A Yue Ma
%A Hao Zhang
%J Stem Cell Research & Therapy
%D 2012
%I BioMed Central
%R 10.1186/scrt105
%X 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.Down syndrome (DS) is the major cause of congenital heart disease and the most frequent genetic cause of mental retardation, which occurs in roughly one of 700 live births [1]. In addition to the characteristic dysmorphology of the facial and physical features, DS is associated with increased risks of leukemia, immune system defects, and an early Alzheimer-like dementia [2]. DS includes caused by the presence of an extra chromosome 21 (trisomy 21), subsets of the phenotypic features of DS may be caused by the duplication of parts of the chromosome 21(translocation) [2,3]. Although translocation affects only about four of 100 people with DS, it is also associated with a number of deleterious phenotypes. Mosaicism results from the abnormal cell division in some cells after fertilization, with some of the cells having 47 chromosomes, and the others being normal [4,5]. Understanding and in
%U http://stemcellres.com/content/3/2/14