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Modeling Niemann-Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation.

Erwood S, Brewer RA, Bily TMI, Maino E, Zhou L, Cohn RD, Ivakine EA
Genome Res. 2019 Dec;29(12):2010-2019. doi: 10.1101/gr.250720.119. Epub 2019 Nov 21. (Link opens in a new window) PubMed (Link opens in a new window) Article

Plasmids from Article

ID Plasmid Purpose
173901BPK1520_puroRSpCas9 guide cloning vector derived from BPK1520 that allows for puromycin-based selection

Antibodies from Article