Dr. Zhang Yanmin from Xi'an Children's Hospital and Help Therapeutics jointly published two research articles

2016-12-05

Dr. Zhang Yanmin from Xi'an Children's Hospital and Help Stem Cell Innovations Co., Ltd. jointly published two research articles describing the establishment of patient-specific iPSC lines. Both iPSC lines carry extremely rare mutations, including Glycogen Storage Disease II involving the GAA gene with two separated point mutations (R608X and E888X) and Catecholaminergic Polymorphic Ventricular Tachycardia involving mutations in the RyR2 gene and SCN10A gene. Being first of its kind, both iPSC lines represent important medical resources for the study of rare pediatric congenital diseases.


Original Link:

1.Generation of induced pluripotent stem cells (iPSCs) from an infant with catecholaminergic polymorphic ventricular tachycardia carrying the double heterozygous mutations A1855D in RyR2 and Q1362H in SCN10A

2.Generation of induced pluripotent stem cells (iPSCs) from an infant with Pompe disease carrying with compound mutations of R608X and E888X in GAA gene

Additional references (published subsequently):

3.Generation of three iPSC lines (XACHi007-A, XACHi008-A, XACHi009-A) from a Chinese family with long QT syndrome type 5 with heterozygous c.226G>A (p.D76N) mutation in KCNE1gene

4.Generation of two induced pluripotent stem cell lines (XACHi0010-A, XACHi0011-A) from a Chinese family with combined oxidative phosphorylation deficiency carrying homozygous and heterozygous C1QBP-L275F mutation

5.HIF-1α/Actl6a/H3K9ac axis is critical for pluripotency and lineage differentiation of human induced pluripotent stem cells



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