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
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
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从患有 DYNC2H1 复合杂合突变的 III 型短肋胸廓发育不良综合征患者中产生诱导多能干细胞系 (SDQLCHi003-a)
DOI：
10.1016/j.scr.2019.101505
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发表时间：
2019
影响因子：
1.2
通讯作者：
Gai Zhongtao
中科院分区：
文献类型：
--
作者：
Zhang Haiyan;Ma Yanyan;Song Fengling;Yang Xiaomeng;Li Yue;Guan Jingyun;Lv Yuqiang;Gao Min;Ma Jian;Liu Yi;Gai Zhongtao
诱导多能干细胞（iPSC）系由来自患有短肋骨-胸廓发育不良综合征III型的27个月大男孩的外周血单核细胞产生，该男孩在DYNC 2 H1中携带复合杂合突变（c.940T>C（p.W314R）和c.10163C>T（p.P3388L））。iPSC具有正常核型，表达多能性标记物，并在体外具有分化潜能。
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)) inDYNC2H1. The iPSCs have a normal karyotype, and express pluripotency markers and bear differentiation potential in vitro.