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Establishment of STUB1/CHIP mutant induced pluripotent stem cells (iPSCs) from a patient with Gordon Holmes syndrome/SCAR16.

Stem cell research - 1 May 2018

Schuster Stefanie, Schelling Yvonne, Synofzik Matthis, Höflinger Philip, Schöls Ludger, Hauser Stefan

Abstract excerpt

STUB1/CHIP is a central component of cellular protein homeostasis and interacts with key proteins involved in the pathogenesis of many neurodegenerative diseases. Here, we reprogrammed human skin fibroblasts from a 12-year-old male patient with recessive spinocerebellar ataxia type 16 (OMIM #615768), carrying compound heterozygous mutations (c.355C>T, c.880A>T) in STUB1. Genomic integrity of the iPSC line...

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Identifiers

PMID: 29679845
DOI: 10.1016/j.scr.2018.04.001

Genes

STUB1

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

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