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An induced pluripotent stem cell line (NCATS-CL9075) from a patient carrying compound heterozygote mutations, p.R390P and p.L318P, in the NGLY1 gene.

Stem cell research - 1 Jul 2021

Pradhan Manisha, Farkhondeh Atena, Cheng Yu-Shan, Xu Miao, Beers Jeanette, Zou Jizhong, Liu Chengyu, Might Matthew, Rodems Steven, Baumgärtel Karsten, Zheng Wei

Abstract excerpt

NGLY1 deficiency is a rare disorder caused by mutations in the NGLY1 gene which codes for the highly conserved N-glycanase1 (NGLY1). This enzyme functions in cytosolic deglycosylation of N- linked glycoproteins. An induced pluripotent stem cell (iPSC) line was generated from the dermal fibroblasts of a 2-year-old patient carrying compound heterozygous mutations, p.R390P and p.L318P in the NGLY1 gene. This...

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PMID: 34051448
DOI: 10.1016/j.scr.2021.102400
PMCID: PMC8362228

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