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  • Title: Integration-free erythroblast-derived human induced pluripotent stem cells (iPSCs) from an individual with Ataxia-Telangiectasia (A-T).
    Author: Bhatt N, Ghosh R, Roy S, Gao Y, Armanios M, Cheng L, Franco S.
    Journal: Stem Cell Res; 2016 Sep; 17(2):205-207. PubMed ID: 27879207.
    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.
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