Generation of an induced pluripotent stem cell line (TRNDi002-B) from a patient carrying compound heterozygous p.Q208X and p.G310G mutations in the NGLY1 gene

Generation of an induced pluripotent stem cell line (TRNDi002-B) from a patient carrying compound heterozygous p.Q208X and p.G310G mutations in the NGLY1 gene

NGLY1 deficiency is a rare genetic disease caused by mutations in the NGLY1 gene that encodes N-glycanase 1. The disease phenotype in patient cells is unclear. A human induced pluripotent stem cell (iPSC) line was generated from skin dermal fibroblasts of a patient with NGLY1 deficiency that has com...

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Bibliographic Details
Main Authors: Rong Li, Manisha Pradhan, Miao Xu, Amanda Baskfield, Atena Farkhondeh, Yu-Shan Cheng, Jeanette Beers, Jizhong Zou, Chengyu Liu, Matthew Might, Steven Rodems, Wei Zheng
Format: Article
Language:English
Published: Elsevier 2019-01-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506118302927

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