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

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 norm...

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Bibliographic Details
Main Authors: Haiyan Zhang, Yanyan Ma, Fengling Song, Xiaomeng Yang, Yue Li, Jingyun Guan, Yuqiang Lv, Min Gao, Jian Ma, Yi Liu, Zhongtao Gai
Format: Article
Language:English
Published: Elsevier 2019-08-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506119301357

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http://www.sciencedirect.com/science/article/pii/S1873506119301357

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