Literature DB >> 30130680

Generation of three spinocerebellar ataxia type-12 patients derived induced pluripotent stem cell lines (IGIBi002-A, IGIBi003-A and IGIBi004-A).

Deepak Kumar1, Ashaq Hussain2, Achal K Srivastava3, Mitali Mukerji4, Odity Mukherjee5, Mohammed Faruq6.   

Abstract

Spinocerebellar ataxia type-12 (SCA12) is a neurological disorder caused due to triplet (CAG) repeat expansion in 5' UTR of PPP2R2B. It is one of the most prominent SCA-subtype in Indian population and till date no patient specific models have been described. Human-induced-pluripotent-stem cell (HiPSC) based disease modelling has become the next generation tool for studying various human pathologies. In the present study we established three SCA12 patient specific iPSC lines. All the generated lines have shown pluripotency markers, normal karyotype, in-vitro three germ layers differentiation potential, vector clearance, SCA12 mutation, parental genomic identity and contamination free culture.
Copyright © 2018 CSIR-Institute of Genomics and Integrative Biology. Published by Elsevier B.V. All rights reserved.

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Year:  2018        PMID: 30130680     DOI: 10.1016/j.scr.2018.08.008

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


  2 in total

Review 1.  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

Review 2.  Human Induced Pluripotent Stem Cell-Based Modelling of Spinocerebellar Ataxias.

Authors:  Bart P C van de Warrenburg; Hans van Bokhoven; Marina P Hommersom; Ronald A M Buijsen; Willeke M C van Roon-Mom
Journal:  Stem Cell Rev Rep       Date:  2021-05-25       Impact factor: 5.739

  2 in total

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