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Establishing a human-induced pluripotent stem cell line (SMUSHi003-A) from a patient with Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.

Stem cell research - 1 Apr 2024

Lei Qunjuan, Zhou Wenyan, Huang Ling, Zhang Yu, Xu Xueqing, Guo Xiaohua

Abstract excerpt

INF2 mutations cause Charcot-Marie-Tooth disease (CMT), and /or focal segmental glomerulosclerosis (FSGS) in an autosomal dominant inheritance mode, whose underlying mechanism remainsunclear. Here, we report the generation of an iPSC line from a female patient with CMT and FSGS. The iPSC line from the patient's PBMCscarried aheterozygous INF2 deletion mutation (c.315_323delGCGCGCCGT) within the conserved E2. This...

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PMID: 38412658
DOI: 10.1016/j.scr.2024.103357

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Establishing a human-induced pluripotent stem cell line (SMUSHi003-A) from a patient with Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.PMID 38412658Read ↗

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