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

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

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 o...

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Bibliographic Details
Main Authors: Manisha Pradhan, Atena Farkhondeh, Yu-Shan Cheng, Miao Xu, Jeanette Beers, Jizhong Zou, Chengyu Liu, Matthew Might, Steven Rodems, Karsten Baumgärtel, Wei Zheng
Format: Article
Language:English
Published: Elsevier 2021-07-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506121002464

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http://www.sciencedirect.com/science/article/pii/S1873506121002464

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