CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction

CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction

Summary: An estimated 3.5%–5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5–30 years. Next-generation sequencing has...

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Bibliographic Details
Main Authors: Kathryn O. Farley, Catherine A. Forbes, Nicole C. Shaw, Emma Kuzminski, Michelle Ward, Gareth Baynam, Timo Lassmann, Vanessa S. Fear
Format: Article
Language:English
Published: Elsevier 2024-01-01
Series:HGG Advances
Subjects:
PTCHD1
rare disease
CRISPR-Cas9
homology-directed repair
disease modeling
synaptic dysfunction
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247723000891

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http://www.sciencedirect.com/science/article/pii/S2666247723000891

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