Journal Article

DZNE-2020-06324

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Establishment of STUB1/CHIP mutant induced pluripotent stem cells (iPSCs) from a patient with Gordon Holmes syndrome/SCAR16.

Schuster, S. (First author)DZNE* ; Schelling, Y.DZNE* ; Synofzik, M.DZNE* ; Höflinger, P.DZNE* ; Schöls, L.DZNE* ; Hauser, S. (Last author)DZNE*

2018
Elsevier Amsterdam [u.a.]

This record in other databases:    

Please use a persistent id in citations: doi:10.1016/j.scr.2018.04.001

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.

Keyword(s): Cellular Reprogramming Techniques (MeSH) ; Cerebellar Ataxia: genetics (MeSH) ; Cerebellar Ataxia: metabolism (MeSH) ; Cerebellar Ataxia: pathology (MeSH) ; Child (MeSH) ; DNA Mutational Analysis (MeSH) ; Fibroblasts: metabolism (MeSH) ; Fibroblasts: pathology (MeSH) ; Gonadotropin-Releasing Hormone: deficiency (MeSH) ; Gonadotropin-Releasing Hormone: genetics (MeSH) ; Gonadotropin-Releasing Hormone: metabolism (MeSH) ; Humans (MeSH) ; Hypogonadism: genetics (MeSH) ; Hypogonadism: metabolism (MeSH) ; Hypogonadism: pathology (MeSH) ; Induced Pluripotent Stem Cells: metabolism (MeSH) ; Induced Pluripotent Stem Cells: pathology (MeSH) ; Male (MeSH) ; Mutation (MeSH) ; Polymorphism, Single Nucleotide (MeSH) ; Skin: metabolism (MeSH) ; Skin: pathology (MeSH) ; Ubiquitin-Protein Ligases: genetics (MeSH) ; Ubiquitin-Protein Ligases: metabolism (MeSH) ; Gonadotropin-Releasing Hormone ; STUB1 protein, human ; Ubiquitin-Protein Ligases

---

Contributing Institute(s):

1. Parkinson Genetics (AG Gasser)
2. Clinical Neurogenetics (AG Schöls)

Research Program(s):

1. 345 - Population Studies and Genetics (POF3-345) (POF3-345)

Appears in the scientific report 2018

---

Database coverage:
; ; ; ; BIOSIS Previews ; Clarivate Analytics Master Journal List ; DOAJ Seal ; IF < 5 ; JCR ; SCOPUS ; Web of Science Core Collection

---