Biblio

Author Title [ Type(Desc)] Year
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Journal Article
Yammine KM, Abularach SMirda, Kim S-Y, Bikovtseva AA, Lilianty J, Butty VL, Schiavoni RP, Bateman JF, Lamandé SR, Shoulders MD. Chondrodysplasia-inducing p.Gly1170Ser causes an ER storage defect without associated unfolded protein response in a human cartilage model. bioRxiv. 2023.
Kung LHW, Sampurno L, Yammine KM, Graham A, McDonald P, Bateman JF, Shoulders MD, Lamandé SR. CRISPR/Cas9 editing to generate a heterozygous COL2A1 p.G1170S human chondrodysplasia iPSC line, MCRIi019-A-2, in a control iPSC line, MCRIi019-A. Stem Cell Res. 2020;48:101962.
Houweling PJ, Coles CA, Tiong CF, Nielsen B, Graham A, McDonald P, Suter A, Piers AT, Forbes R, Ryan MM, et al. Generating an iPSC line (with isogenic control) from the PBMCs of an ACTA1 (p.Gly148Asp) nemaline myopathy patient. Stem Cell Res. 2021;54:102429.
Far HHosseini, Patria YNur, Motazedian A, Elefanty AG, Stanley EG, Lamandé SR, Bateman JF. Generation of a heterozygous COL1A1 (c.3969_3970insT) osteogenesis imperfecta mutation human iPSC line, MCRIi001-A-1, using CRISPR/Cas9 editing. Stem Cell Res. 2019;37:101449.
Lilianty J, Bateman JF, Lamandé SR. Generation of a heterozygous COL2A1 (p.G1113C) hypochondrogenesis mutation iPSC line, MCRIi019-A-7, using CRISPR/Cas9 gene editing. Stem Cell Res. 2021;56:102515.
Lilianty J, Patria YNur, Stanley EG, Elefanty AG, Bateman JF, Lamandé SR. Generation of a heterozygous COL2A1 (p.R989C) spondyloepiphyseal dysplasia congenita mutation iPSC line, MCRIi001-B, using CRISPR/Cas9 gene editing. Stem Cell Res. 2020;45:101843.
Kung LHW, Sampurno L, Little CB, Lamandé SR, Bateman JF. Generation of a miR-26b stem-loop knockout human iPSC line, MCRIi019-A-1, using CRISPR/Cas9 editing. Stem Cell Res. 2020;50:102118.
Lamandé SR, Ng ES, Cameron TL, Kung LHW, Sampurno L, Rowley L, Lilianty J, Patria YNur, Stenta T, Hanssen E, et al. Modeling human skeletal development using human pluripotent stem cells. Proc Natl Acad Sci U S A. 2023;120(19):e2211510120.
Yammine KM, Abularach SMirda, Sampurno L, Bateman JF, Lamandé SR, Shoulders MD. Using CRISPR/Cas9 to generate a heterozygous COL2A1 p.R719C iPSC line (MCRIi019-A-6) model of human precocious osteoarthritis. Stem Cell Res. 2023;67:103020.