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

ABSTRACT: 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 pluripotency markers. These iPSC lines also stain positively for Ectoderm, Endoderm and Mesoderm markers following Embryoid body differentiation. These lines pose to serve as a valuable disease modeling resource for studying the SORD neuropathy, including studying disease phenotype and treatment efficacy.

SUBMITTER: Yanick C

PROVIDER: S-EPMC11259078 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature

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

Yanick Christopher C Maciel Renata R Jacobs Elizabeth E Schatzman Jacquelyn J Shy Michael M Zuchner Stephan S Saporta Mario M

Stem cell research 20240522

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 pluripotency markers. These iPSC lines also stain positively for Ectoderm, Endoderm and Mesod ...[more]

PMID: 38796985

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