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Article

Generation of a human induced pluripotent stem cell line (FSMi001-A) from fibroblasts of a patient carrying heterozygous mutation in the REEP1 gene.

Stem cell research - 1 Sept 2024

Baggiani Matteo, Santorelli Filippo Maria, Mero Serena, Privitera Flavia, Damiani Devid, Tessa Alessandra

Abstract excerpt

Hereditary spastic paraplegias (HSPs) a group of rare, clinically, and genetically heterogeneous disorders characterized by progressive degeneration of the corticospinal tract. Among these HSPs, SPG31 is due to autosomal dominant mutations in the receptor expression-enhancing protein 1 (REEP1) gene. Over 80 genes have been associated with HSPs, and the list is constantly growing as research progresses. This study...

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Identifiers

PMID: 38889632
DOI: 10.1016/j.scr.2024.103472
PMCID: PMC11307172

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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