Steven Rodems Selected Research

NGLY1 deficiency

10/2021	Generation of two gene corrected human isogenic iPSC lines (NCATS-CL6104 and NCATS-CL6105) from a patient line (NCATS-CL6103) carrying a homozygous p.R401X mutation in the NGLY1 gene using CRISPR/Cas9.
1/2019	An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene.
1/2019	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.

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Steven Rodems Research Topics

Disease

3	NGLY1 deficiency 10/2021 - 01/2019
2	Inborn Genetic Diseases (Disease, Hereditary) 10/2021 - 01/2019
2	Alagille Syndrome (Alagille-Watson Syndrome) 01/2021 - 01/2021

Drug/Important Bio-Agent (IBA)

3	Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine AmidaseIBA 10/2021 - 01/2019
1	Jagged-1 ProteinIBA 01/2021
1	HydrolasesIBA 01/2019
1	Glycoproteins (Glycoprotein)IBA 01/2019
1	Pharmaceutical PreparationsIBA 01/2019

Therapy/Procedure

1	Therapeutics 01/2021