Article

Correction of a pathogenic mutation in iPSCs derived from a patient with Christianson syndrome using CRISPR/Cas9 genome editing

2021-05-20

Abstract excerpt

SLC9A6 (also termed NHE6 ) encodes the endosomal Na+/H+ exchanger 6 (NHE6). Pathogenic, loss-of-function mutations in NHE6 cause the X-linked neurogenetic disorder Christianson syndrome (CS). We developed induced pluripotent stem cell (iPSC) lines derived from a patient with CS and from a biologically related control. The patient with CS contained the nonsense mutation c.1569G>A (p.(W523X)), which caused a signi...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 56818860-75fd-5703-bf46-c0948a7c40c7
DOI: 10.1101/2021.05.20.445025

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Correction of a pathogenic mutation in iPSCs derived from a patient with Christianson syndrome using CRISPR/Cas9 genome editingDOI 10.1101/2021.05.20.445025Read

Human iPSC lines from a Christianson syndrome patient with NHE6 W523X mutation, a biologically-related control, and CRISPR/Cas9 gene-corrected isogenic controls.Semantic proximity Read

Human neurons from Christianson syndrome iPSCs reveal mutation-specific responses to rescue strategies.Semantic proximity Read

Human neurons from Christianson syndrome iPSCs reveal allele-specific responses to rescue strategiesSemantic proximity Read

Functional Assessment In Vivo of the Mouse Homolog of the Human Ala-9-Ser NHE6 Variant.Semantic proximity Read

Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.Semantic proximity Read

Generation and characterization of a human iPSC line and gene-corrected isogenic line derived from a patient with a CELF2 gene mutation.Semantic proximity Read

Generation of two gene corrected human isogenic iPSC lines (NCATS-CL6104 and NCATS-CL6105) from a patient line (NCATS-CL6103) carrying a homozygous p.R401X mutation in the NGLY1 gene using CRISPR/Cas9.Semantic proximity Read

Generation of WTD, a control human iPSC line for genetic research.Semantic proximity Read

Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults.Semantic proximity Read

X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities.Semantic proximity Read

A repository of Ogden syndrome patient derived iPSC lines and isogenic pairs by X-chromosome screening and genome-editingSemantic proximity Read

Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family.Semantic proximity Read