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.

Affiliation

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: [Email]

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.

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