Biblio
Disease modeling for Mucopolysaccharidosis type IIIB using patient derived induced pluripotent stem cells. Exp Cell Res. 2021:112785.
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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. Stem Cell Res. 2018;34:101362.
Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying a hemizygous 208insC mutation in the IDS gene. Stem Cell Res. 2019;37:101451.
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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 Res. 2021;54:102400.
An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene. Stem Cell Res. 2019;39:101496.
A Protocol for Culture and Characterization of Human Induced Pluripotent Stem Cells After Induction. Curr Protoc. 2023;3(8):e866.
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