Generation of two non-integrated induced pluripotent stem c…

Abstract

Mutations in the neurofibromin (NF1) gene cause neurofibromatosis type 1 (NF1), a complex tumour predisposition syndrome. Here, we generated two induced pluripotent stem cell (iPSC) lines using urine cells (UCs) derived from a 21-year-old female NF1 patient carrying c.496_497delGT mutation in the NF1 gene (p.Val166LeufsTer7). The newly derived SMBCi003-A and SMBCi003-B iPSC lines used as a cellular model to unravel pathogenesis of NF1.

MeSH 主题词

Adult China Female Genes, Neurofibromatosis 1 Humans Induced Pluripotent Stem Cells Mutation Neurofibromatosis 1/genetics Neurofibromin 1/genetics Young Adult

化学物质

Neurofibromin 1

作者与单位

共 6 位作者，点击展开单位 / ORCID

Shi Liang

Department of Orthopedic Surgery, The First Affiliated Hospital of Shandong First Medical University, Ji'nan 250014, Shandong, China; Biomedical Sciences College, Shandong Medicinal Biotechnology Centre, Shandong First Medical University & Shandong Academy of Medical Sciences, Ji'nan 250062, Shandong, China; Key Lab for Biotech-Drugs of National Health Commission, Ji'nan 250062, Shandong, China; Key Lab for Rare & Uncommon Diseases of Shandong Province, Ji'nan 250062, Shandong, China.

Cui Yazhou

Department of Orthopedic Surgery, The First Affiliated Hospital of Shandong First Medical University, Ji'nan 250014, Shandong, China; Biomedical Sciences College, Shandong Medicinal Biotechnology Centre, Shandong First Medical University & Shandong Academy of Medical Sciences, Ji'nan 250062, Shandong, China; Key Lab for Biotech-Drugs of National Health Commission, Ji'nan 250062, Shandong, China; Key Lab for Rare & Uncommon Diseases of Shandong Province, Ji'nan 250062, Shandong, China.

Qi Zijuan

Biomedical Sciences College, Shandong Medicinal Biotechnology Centre, Shandong First Medical University & Shandong Academy of Medical Sciences, Ji'nan 250062, Shandong, China; Key Lab for Biotech-Drugs of National Health Commission, Ji'nan 250062, Shandong, China; Key Lab for Rare & Uncommon Diseases of Shandong Province, Ji'nan 250062, Shandong, China.

Zhou Xiaoyan

Department of Orthopedic Surgery, The First Affiliated Hospital of Shandong First Medical University, Ji'nan 250014, Shandong, China; Biomedical Sciences College, Shandong Medicinal Biotechnology Centre, Shandong First Medical University & Shandong Academy of Medical Sciences, Ji'nan 250062, Shandong, China; Key Lab for Biotech-Drugs of National Health Commission, Ji'nan 250062, Shandong, China; Key Lab for Rare & Uncommon Diseases of Shandong Province, Ji'nan 250062, Shandong, China.

Luan Jing

Department of Orthopedic Surgery, The First Affiliated Hospital of Shandong First Medical University, Ji'nan 250014, Shandong, China; Biomedical Sciences College, Shandong Medicinal Biotechnology Centre, Shandong First Medical University & Shandong Academy of Medical Sciences, Ji'nan 250062, Shandong, China; Key Lab for Biotech-Drugs of National Health Commission, Ji'nan 250062, Shandong, China; Key Lab for Rare & Uncommon Diseases of Shandong Province, Ji'nan 250062, Shandong, China.

Han Jinxiang

Department of Orthopedic Surgery, The First Affiliated Hospital of Shandong First Medical University, Ji'nan 250014, Shandong, China; Biomedical Sciences College, Shandong Medicinal Biotechnology Centre, Shandong First Medical University & Shandong Academy of Medical Sciences, Ji'nan 250062, Shandong, China; Key Lab for Biotech-Drugs of National Health Commission, Ji'nan 250062, Shandong, China; Key Lab for Rare & Uncommon Diseases of Shandong Province, Ji'nan 250062, Shandong, China. Electronic address: jxhan9888@aliyun.com.

Generation of two non-integrated induced pluripotent stem cell lines from urine-derived cells of a Chinese patient carrying NF1 gene mutation.

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