title: Integration-free erythroblast-derived human induced pluripotent stem cells (iPSCs) from an individual with Ataxia-Telangiectasia (A-T).
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.
authors.affiliation: 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.
authors.forename: Niraj
authors.initials: N
authors.lastname: Bhatt
authors.affiliation: 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.
authors.forename: Rajib
authors.initials: R
authors.lastname: Ghosh
authors.affiliation: 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.
authors.forename: Sanchita
authors.initials: S
authors.lastname: Roy
authors.affiliation: Division of Hematology, Department of Medicine, and the Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
authors.forename: Yongxing
authors.initials: Y
authors.lastname: Gao
authors.affiliation: 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.
authors.forename: Mary
authors.initials: M
authors.lastname: Armanios
authors.affiliation: Division of Hematology, Department of Medicine, and the Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
authors.forename: Linzhao
authors.initials: L
authors.lastname: Cheng
authors.affiliation: 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.
authors.forename: Sonia
authors.initials: S
authors.lastname: Franco
mesh_terms: D000818:Animals; D001260:Ataxia Telangiectasia / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D064007:Ataxia Telangiectasia Mutated Proteins / Q000235:genetics; D001483:Base Sequence; D002454:Cell Differentiation; D002460:Cell Line; D065150:Cellular Reprogramming; D002648:Child; D004252:DNA Mutational Analysis; D004900:Erythroblasts / Q000166:cytology* / Q000378:metabolism; D005091:Exons; D017353:Gene Deletion; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology / Q000378:metabolism* / Q000637:transplantation; D059785:Karyotype; D008297:Male; D051379:Mice; D016688:Mice, Inbred NOD; D013724:Teratoma / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism; D014183:Transplantation, Heterologous
chemical_list: D014157:Transcription Factors; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins