Stem Cell Res. 2016 Sep;17(2):205-207. doi: 10.1016/j.scr.2016.08.003. Epub 2016 Aug 5.
Author information
- 1
- Department of Radiation Oncology and Molecular Radiation Sciences, and the Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
- 2
- Division of Hematology, Department of Medicine, and the Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
- 3
- Department of Oncology, the Sidney Kimmel Comprehensive Cancer Center and the McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
- 4
- Department of Radiation Oncology and Molecular Radiation Sciences, and the Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA. Electronic address: sfranco2@jhmi.edu.
Abstract
Peripheral blood was obtained from a 12-year old male carrying bialleleic inactivating mutations at the ATM locus, causing Ataxia-Telangiectasia (A-T). Blood erythroid cells were briefly expanded in vitro and induced pluripotent stem cells (iPSCs) were generated via transfection with episomal vectors carrying hOCT4, hSOX2, hKLF4, hMYC and hBCL2L1. SF-003 iPSCs were free of genomically integrated reprogramming genes, had the specific compound heterozygous mutations, stable karyotype, expressed pluripotency markers and formed teratomas in immunodeficient (NOD scid gamma; NGS) mice. The SF-003 iPSC line may be a useful resource for in vitro modeling of A-T.
- PMID:
- 27879207
- DOI:
- 10.1016/j.scr.2016.08.003
- [Indexed for MEDLINE]