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

Publication date: Available online 19 July 2019Source: Stem Cell ResearchAuthor(s): Haiyan Zhang, Yanyan Ma, Fengling Song, Xiaomeng Yang, Yue Li, Jingyun Guan, Yuqiang Lv, Min Gao, Jian Ma, Yi Liu, Zhongtao GaiAbstractAn 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.
Source: Stem Cell Research - Category: Stem Cells Source Type: research