Literature DB >> 30611021

Generation of Spinocerebellar Ataxia Type 2 induced pluripotent stem cell lines, CHOPi002-A and CHOPi003-A, from patients with abnormal CAG repeats in the coding region of the ATXN2 gene.

Jean Ann Maguire1, Alyssa L Gagne1, Pedro Gonzalez-Alegre2, Beverly L Davidson1, Vikram Shakkottai3, Paul Gadue1, Deborah L French4.   

Abstract

Spinocerebellar Ataxia Type 2 (SCA2) is an autosomal dominant disease characterized by progressive degeneration of the cerebellum, brain stem, and spinal cord. SCA2 is caused by spontaneous misfolding and aggregate formation from abnormal CAG trinucleotide repeat expansion in the coding region of the ATXN2 gene. Here we describe the generation of two distinct iPSC lines from patients with SCA2.
Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.

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Year:  2018        PMID： 30611021     DOI： 10.1016/j.scr.2018.101361

Source DB:  PubMed          Journal:  Stem Cell Res        ISSN： 1873-5061            Impact factor:   2.020


  3 in total

Review 1.  Modeling Polyglutamine Expansion Diseases with Induced Pluripotent Stem Cells.

Authors:  Swati Naphade; Kizito-Tshitoko Tshilenge; Lisa M Ellerby
Journal:  Neurotherapeutics       Date:  2019-10       Impact factor: 7.620

2.  Generation of a double insulin and somatostatin reporter line, SCSe001-A-3, for the advancement of stem cell-derived pancreatic islets.

Authors:  Karla F Leavens; Chia-Min Liao; Alyssa L Gagne; Siddharth Kishore; Fabian L Cardenas-Diaz; Deborah L French; Paul Gadue
Journal:  Stem Cell Res       Date:  2020-12-08       Impact factor: 1.587

Review 3.  In vitro Models of Neurodegenerative Diseases.

Authors:  Anna Slanzi; Giulia Iannoto; Barbara Rossi; Elena Zenaro; Gabriela Constantin
Journal:  Front Cell Dev Biol       Date:  2020-05-13
  3 in total

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