FlyBase Reference Report: Mast and DiPrimio, 2019.3.13, Npc1a[I1060T] allele from Perlara.

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Citation

Mast, J., DiPrimio, N. (2019.3.13). Npc1a[I1060T] allele from Perlara.

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FBrf0241757

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Personal communication to FlyBase

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The following information accompanied stocks donated to the Bloomington Drosophila Stock Center by Joshua Mast and Nina DiPrimio, Perlara PBC.
Npc1a^I1060T - CRISPR/Cas9-mediated homologous dependent repair was used to make amino acid change I1060T in Npc1a. This change was designed to mimic the I1061T change found in human NPC1 in patients with Neimann-Pick disease.

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English

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