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Stem Cell Res. 2019 Aug;39:101505. doi: 10.1016/j.scr.2019.101505. Epub 2019 Jul 19.

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.

Author information

1
Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
2
Pediatric Health Care Institute, Qilu Children's Hospital of Shandong University, Jinan, Shangdong 250022, China.
3
Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. Electronic address: y_liu99@sina.com.
4
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. Electronic address: gaizhongtao@sina.com.

Abstract

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.

PMID:
31415973
DOI:
10.1016/j.scr.2019.101505
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