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 |
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| Format: | Article
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| Language: | English |
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| Published: |
Elsevier
2019-08-01
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| Series: | Stem Cell Research
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506119301357
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