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Ankylosing spondylitis (AS) is a highly heritable, inflammatory rheumatic disease, characterized by inflammation of the spine and the sacroiliac joints. Although some genes are reportedly associated with this disease, the pathogenesis of AS remains largely unknown. In this study, the peripheral blood mononuclear cells of a patient with AS were reprogrammed to induced pluripotent stem cells (iPSCs) using transgene-free, episomal plasmid vectors. The established iPSC line was validated by multiple methods and demonstrated typical characteristics of embryonic stem cells. This cell line (SHFDi001-A) may be beneficial in disease modeling and related research.

ABSTRACT: Heredity is the major factor contributing to the susceptibility to ankylosing spondylitis(AS). Janus kinase 2 (JAK2) has been associated with AS. Urine-derived cells from an AS patient with JAK2 mutation were used to generate induced pluripotent stem cells (iPSCs) with five episomal iPSC reprogramming vectors (pCXLE-hOCT3/4-shp53-F, pCXLE-hSK, pCXLE-hUL, pCXLE-EGFP and pCXWB-EBNA1). The iPSCs were pluripotent and will be valuable for research on the role and mechanism of JAK2 in the pathogenesis of AS.

CHARGE syndrome is a rare disease caused by a genetic disorder. The clinical features of this syndrome include coloboma of the eye, heart anomaly, choanal atresia, retardation of mental and somatic development, microphallus, ear abnormalities and/or deafness. CHD7 is the main causative gene for CHARGE syndrome. In this study, we generated an induced pluripotent stem cell (iPSC) line from the dermal fibroblasts of a 1.5-year-old girl, carrying a de novo mutation (CHD7;NM_017780;c.3449_3450delTC;p.L1151Gfs*17). This iPSC line will be a useful tool for investigating the pathogenesis and for developing treatment for this complicated syndrome.