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Article

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

HGG advances - 11 Jan 2024

Farley Kathryn O, Forbes Catherine A, Shaw Nicole C, Kuzminski Emma, Ward Michelle, Baynam Gareth, Lassmann Timo, Fear Vanessa S

Abstract excerpt

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 improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38007613
DOI: 10.1016/j.xhgg.2023.100257
PMCID: PMC10787298

Genes

PTCHD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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