title: Generation of an induced pluripotent stem cell line from a Loeys-Dietz syndrome patient with transforming growth factor-beta receptor-2 gene mutation.
abstract: Loeys-Dietz syndrome (LDS) is an autosomal-dominant connective tissue disorder, commonly caused by genetic mutation of transforming growth factor-beta receptor (TGFBR)-1 or TGFBR2. This study describes the generation of human induced pluripotent stem cells (hiPSCs) from peripheral blood mononuclear cells obtained from an LDS patient with TGFBR2 mutation (R193W). Analysis confirmed the cells had a normal karyotype, expressed typical pluripotency markers, had the ability to differentiate into all three germ layers in vivo, and retained the TGFBR2 mutation from the derived hiPSCs. This iPSC line represents a potentially useful tool for investigating LDS disease mechanisms.
authors.affiliation: Department of Cardiovascular Surgery, Zhongshan Hospital, Fudan University, Shanghai, China; Department of Cardiovascular Surgery, Guizhou Provincial People's Hospital, Guiyang, China.
authors.forename: Kui
authors.initials: K
authors.lastname: Hu
authors.affiliation: Department of Cardiovascular Surgery, Zhongshan Hospital, Fudan University, Shanghai, China. Electronic address: li.jun@zs-hospital.sh.cn.
authors.forename: Jun
authors.initials: J
authors.lastname: Li
authors.affiliation: Department of Cardiovascular Surgery, Zhongshan Hospital, Fudan University, Shanghai, China.
authors.forename: Kai
authors.initials: K
authors.lastname: Zhu
authors.affiliation: Department of Cardiovascular Surgery, Zhongshan Hospital, Fudan University, Shanghai, China.
authors.forename: Jinmiao
authors.initials: J
authors.lastname: Chen
authors.affiliation: Department of Cardiovascular Surgery, Zhongshan Hospital, Fudan University, Shanghai, China.
authors.forename: Dingqian
authors.initials: D
authors.lastname: Liu
authors.affiliation: Department of Cardiovascular Surgery, Zhongshan Hospital, Fudan University, Shanghai, China.
authors.forename: Yulin
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Department of Cardiovascular Surgery, Zhongshan Hospital, Fudan University, Shanghai, China.
authors.forename: Yongxin
authors.initials: Y
authors.lastname: Sun
authors.affiliation: Department of Cardiovascular Surgery, Zhongshan Hospital, Fudan University, Shanghai, China.
authors.forename: Hao
authors.initials: H
authors.lastname: Lai
authors.affiliation: Department of Cardiovascular Surgery, Zhongshan Hospital, Fudan University, Shanghai, China. Electronic address: wang.chunsheng@zs-hospital.sh.cn.
authors.forename: Chunsheng
authors.initials: C
authors.lastname: Wang
mesh_terms: D000328:Adult; D000818:Animals; D001483:Base Sequence; D002460:Cell Line; D065150:Cellular Reprogramming; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism / Q000637:transplantation; D059785:Karyotype; D007963:Leukocytes, Mononuclear / Q000166:cytology / Q000378:metabolism; D055947:Loeys-Dietz Syndrome / Q000378:metabolism / Q000473:pathology*; D051379:Mice; D008807:Mice, Inbred BALB C; D008819:Mice, Nude; D008856:Microscopy, Fluorescence; D020641:Polymorphism, Single Nucleotide; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D013724:Teratoma / Q000378:metabolism / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
chemical_list: D018125:Receptors, Transforming Growth Factor beta; D014157:Transcription Factors; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II