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Article

Generation of 3 patient induced Pluripotent stem cell lines containing SORD mutations linked to a recessive neuropathy.

Stem cell research - 1 Aug 2024

Yanick Christopher, Maciel Renata, Jacobs Elizabeth, Schatzman Jacquelyn, Shy Michael, Zuchner Stephan, Saporta Mario

Abstract excerpt

The SORD neuropathy has been identified as the most common autosomal recessive inherited neuropathy, occurring in thousands of patients worldwide. Fibroblast lines from 3 different patients containing the c.753delG; p.Ala253GlnfsTer27 SORD mutations were reprogrammed into induced Pluripotent Stem Cell (iPSC) lines. These iPSC lines demonstrate an apparent normal karyotype and have positive expression of...

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Identifiers

PMID: 38796985
DOI: 10.1016/j.scr.2024.103449
PMCID: PMC11259078

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