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Gene Repair of iPSC Line with GARS (G294R) Mutation of CMT2D Disease by CRISPR/Cas9.

Current medical science - 1 Apr 2023

Lu Pei-Jie, Zhang Pei, Liu Yu-Chun, Jing Na, Guo Ya-Nan, Wang Peng-Shuai, Su Lin-Lin, Guo Qi, Ma Qiang, Xu Yu-Ming, Zhang Shou-Tao

Abstract excerpt

OBJECTIVE: Charcot-Marie-Tooth disease (CMT) severely affects patient activity, and may cause disability. However, no clinical treatment is available to reverse the disease course. The combination of CRISPR/Cas9 and iPSCs may have therapeutic potential against nervous diseases, such as CMT. METHODS: In the present study, the skin fibroblasts of CMT type 2D (CMT2D) patients with the c.880G>A heterozygous...

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Charcot-Marie-Tooth Disease
CRISPR-Cas Systems
Induced Pluripotent Stem Cells
Mutation

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 36932303
DOI: 10.1007/s11596-023-2707-8

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Gene Repair of iPSC Line with GARS (G294R) Mutation of CMT2D Disease by CRISPR/Cas9.PMID 36932303Read ↗

Generation of a human induced pluripotent stem cell (iPSC) line (JUCTCi019-A) from a patient with Charcot-Marie-Tooth disease type 2A2 (CMT2A2) due to a heterozygous missense substitution c.2119C > T (p.Arg707Trp) in MFN2 gene.Semantic proximity Read ↗

Establishment of a human induced pluripotent stem cell (iPSC) line (JUCTCi018-A) from a patient with Charcot-Marie-Tooth disease type 2EE (CMT2EE) due to a homozygous c.122G > A p.(Arg41Gln) mutation in the MPV17 gene.Semantic proximity Read ↗

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