Generation of a human iPSC line CIBi011-A from amniocytes of a healthy fetus.

Human induced pluripotent stem cells (iPSC) resemble human embryonic stem cells with potential to differentiate into cells of all adult tissues. Nonetheless human iPSCs may have an epigenetic memory of their donor tissue origin, are easier to differentiate to those lineages, and their potential to other cell fates can be controlled. We generated a human iPSC line CIBi011-A from amniocytes of a healthy fetus. CIBi011-A serves as a useful source to investigate the epigenetic memory of iPSCs. As an iPSC line from a healthy donor, this line can also serve as a potential cell source from which to develop stem cell-based cell therapies.

Generation of a human induced pluripotent stem cell line (SMUSHi001-A) from a patient with 46, XX male sex reversal syndrome carrying the SRY gene.

The 46, XX male sex reversal syndrome (SRS) is a rare disease with a gender dysplasia phenotype. Scientists concur that SRS is associated with translocation of the sex-determining region Y gene (SRY). We obtained peripheral blood mononuclear cells (PBMCs)from an 18-year-old male with SRS to generate an induced pluripotent stem cell (iPSC) line (SMUSHi001-A). Karyotyping analysis of the patient PBMCs revealed a normal 46, XX karyotype carrying the SRY gene. Pluripotent markers were successfully detected in SMUSHi001-A which can be differentiated into three germ layers in vitro. This cell line will provide a cell model for exploring the pathogenesis and potential therapeutic methods of SRS.

Generation of a human iPSC line QDMHi001-A from a patient with Marfan syndrome carrying a heterozygous c.6772 T > C variant in FBN1.

Variants in FBN1 are associated with Marfan Syndrome, an autosomal dominant disorder with clinical features that involve the musculoskeletal, cardiovascular and ocular systems. We generated a human iPSC line QDMHi001-A from a patient with Marfan syndrome and a heterozygous c.6772 T > C (p.Cys2258Arg) variant in FBN1. This line will be a valuable resource for in vitro disease modeling and drug testing for Marfan syndrome.

Generation of a human iPSC line CIBi008-A from amniotic fluid-derived cells of a fetus with ß-thalassemia carrying variants of -28A > G and IVS-II-654C > T in HBB.

ß-thalassemia is mostly caused by homozygous or compound heterozygous variants in HBB. We generated a human iPSC line CIBi008-A from amniotic fluid-derived cells of a fetus with ß-thalassemia major, carrying compound heterozygous -28A > G and IVS-II-654C > T variants in HBB gene. This line will be a valuable resource for disease modeling and testing gene therapies for ß-thalassemia.

Generation of a human iPSC line CIBi007-A from a patient with young-onset Parkinson's disease carrying variants in PRKN and HTRA2.

Variations in PRKN or HTRA2 are associated with Parkinson's disease. We generated a human induced pluripotent stem cell (iPSC) line CIBi007-A from a patient with young-onset Parkinson's disease (YOPD) who carried variants in PRKN and HTRA2. The generated iPSCs resembled human embryonic stem cells, expressed pluripotency markers, exhibited a normal karyotype, and could be differentiated into three germ layers in vitro. This line will be valuable for investigating disease mechanisms of YOPD and screening candidate drugs.