Biblio

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Serra-Vinardell J, Sandler MB, Pak E, Zheng W, Dutra A, Introne W, Gahl WA, Malicdan MChristine. Generation and characterization of four Chediak-Higashi Syndrome (CHS) induced pluripotent stem cell (iPSC) lines. Stem Cell Res. 2020;47:101883.
Li R, Pradhan M, Xu M, Baskfield A, Farkhondeh A, Cheng Y-S, Beers J, Zou J, Liu C, Might M, et al. 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.
Baskfield A, Li R, Beers J, Zou J, Liu C, Zheng W. Generation of an induced pluripotent stem cell line (TRNDi004-I) from a Niemann-Pick disease type B patient carrying a heterozygous mutation of p.L43_A44delLA in the SMPD1 gene. Stem Cell Res. 2019;37:101436.
Li R, Baskfield A, Beers J, Zou J, Liu C, Alméciga-Díaz CJ, Zheng W. Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene. Stem Cell Res. 2019;36:101408.
Hong J, Xu M, Li R, Cheng Y-S, Kouznetsova J, Beers J, Liu C, Zou J, Zheng W. 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.
Brooks BM, Pradhan M, Cheng Y-S, Gorshkov K, Farkhondeh A, Chen CZ, Beers J, Liu C, Baumgaertel K, Rodems S, et al. 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.
Pavlinov I, Farkhondeh A, Yang S, Xu M, Cheng Y-S, Beers J, Zou J, Liu C, Might M, Rodems S, et al. 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.
Middha P, Wang X, Behrens S, Bolla MK, Wang Q, Dennis J, Michailidou K, Ahearn TU, Andrulis IL, Anton-Culver H, et al. A genome-wide gene-environment interaction study of breast cancer risk for women of European ancestry. Breast Cancer Res. 2023;25(1):93.

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