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Generation of an induced pluripotent stem cell line (TRNDi031-A) from a patient with Alagille syndrome type 1 carrying a heterozygous p. C312X (c. 936 T > A) mutation in JAGGED-1. Stem Cell Res. 2021;54:102447.
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. Stem Cell Res. 2021;56:102554.
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.
Induced pluripotent stem cells for neural drug discovery. Drug Discov Today. 2019..