Journal
STEM CELL RESEARCH
Volume 73, Issue -, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.scr.2023.103235
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In this study, a hiPSC line was generated from a 15-year-old male patient with CDG and characterized, showing normal characteristics and potential, with analysis on the variants in the ALG8 gene.
Congenital Disorders of Glycosylation (CDG) are rare inherited metabolic diseases caused by genetic defects in the glycosylation of proteins and lipids. In this study, we describe the generation and characterization of one human induced pluripotent stem cell (hiPSC) line from a 15-year-old male patient with CDG. The patient carried three variants, one (c.122G > A; p.Arg41Gln) inherited from his father and two (c.445 T > G; p.Leu149Arg and the novel c.980C > G; p.Thr327Arg) inherited from his mother in the ALG8 gene (OMIM #608103). The generated hiPSC line shows a normal karyotype, expresses pluripotency markers, and is able to differentiate into the three germ layers.
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