从一名患有III型短肋胸廓发育不良综合征且DYNC2H1基因携带复合杂合突变的患者身上生成诱导多能干细胞系（SDQLCHi003-a）。
Generation of an induced pluripotent stem cell line (SDQLCHi003-a) from a patient with short rib-thoracic dysplasia syndrome type III carrying compound heterozygous mutations in DYNC2H1.
作者信息
Zhang Haiyan, Ma Yanyan, Song Fengling, Yang Xiaomeng, Li Yue, Guan Jingyun, Lv Yuqiang, Gao Min, Ma Jian, Liu Yi, Gai Zhongtao
机构信息
Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
Pediatric Health Care Institute, Qilu Children's Hospital of Shandong University, Jinan, Shangdong 250022, China.
出版信息
Stem Cell Res. 2019 Aug;39:101505. doi: 10.1016/j.scr.2019.101505. Epub 2019 Jul 19.
An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells from a 27-month-old boy with short rib-thoracic dysplasia syndrome type III carrying compound heterozygous mutations (c.940T>C(p.W314R) and c.10163C>T(p.P3388L)) in DYNC2H1. The iPSCs have a normal karyotype, and express pluripotency markers and bear differentiation potential in vitro.
从一名患有III型短肋胸廓发育不良综合征的27个月大男孩的外周血单个核细胞中生成了诱导多能干细胞（iPSC）系，该男孩在动力蛋白2重链1（DYNC2H1）基因中携带复合杂合突变（c.940T>C（p.W314R）和c.10163C>T（p.P3388L））。这些诱导多能干细胞具有正常的核型，表达多能性标志物，并在体外具有分化潜能。
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