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

Abstract

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 HIHCNi001-A without transgene integration and genomic aberration but with maintained disease-relevant mutations was proven by SNP array analysis and Sanger sequencing while pluripotency was verified by the expression of important pluripotency markers and the capacity to differentiate into cells of all three germ layers.

• Authors: Stefanie Schuster, Yvonne Schelling, Matthis Synofzik, Philip Höflinger, Ludger Schöls, Stefan Hauser
• Journal: Stem cell research (Stem Cell Res) Vol. 29 Pg. 166-169 (05 2018) ISSN: 1876-7753 [Electronic] England
• PMID: 29679845 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.

Chemical References

• Gonadotropin-Releasing Hormone
• STUB1 protein, human
• Ubiquitin-Protein Ligases

Topics

• Cellular Reprogramming Techniques
• Cerebellar Ataxia (genetics, metabolism, pathology)
• Child
• DNA Mutational Analysis
• Fibroblasts (metabolism, pathology)
• Gonadotropin-Releasing Hormone (deficiency, genetics, metabolism)
• Humans
• Hypogonadism (genetics, metabolism, pathology)
• Induced Pluripotent Stem Cells (metabolism, pathology)
• Male
• Mutation
• Polymorphism, Single Nucleotide
• Skin (metabolism, pathology)
• Ubiquitin-Protein Ligases (genetics, metabolism)