Journal article
Generation of 3 patient induced Pluripotent stem cell lines containing SORD mutations linked to a recessive neuropathy
Stem cell research, Vol.78, 103449
08/2024
DOI: 10.1016/j.scr.2024.103449
PMCID: PMC11259078
PMID: 38796985
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.
Details
- Title: Subtitle
- Generation of 3 patient induced Pluripotent stem cell lines containing SORD mutations linked to a recessive neuropathy
- Creators
- Christopher Yanick - University of MiamiRenata Maciel - University of MiamiElizabeth Jacobs - University of MiamiJacquelyn Schatzman - University of MiamiMichael Shy - University of IowaStephan Zuchner - University of MiamiMario Saporta - University of Miami
- Resource Type
- Journal article
- Publication Details
- Stem cell research, Vol.78, 103449
- DOI
- 10.1016/j.scr.2024.103449
- PMID
- 38796985
- PMCID
- PMC11259078
- NLM abbreviation
- Stem Cell Res
- ISSN
- 1873-5061
- eISSN
- 1876-7753
- Publisher
- Elsevier B.V
- Language
- English
- Electronic publication date
- 05/22/2024
- Date published
- 08/2024
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
- Record Identifier
- 9984630597802771
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