Generation of an Induced pluripotent stem cell (iPSC) line (IGIBi011-A) from a Spinocerebellar ataxia type 12 gait dominant patient


The PPP2R2B gene, expressed highly in the brain, harbours trinucleotide CAG repeats in the 5'UTR region, in the range of 7-42 repeats. Individuals carrying CAG repeats greater than 43 have been associated to manifest a neurodegenerative disease condition termed as Spinocerebellar Ataxia type 12 (SCA12). An iPSC line from an adult male diagnosed with SCA12 presenting symptoms of gait (Gait Dominance) was generated. It showed pluripotency and trilineage markers without any chromosomal abnormality. This line can be utilized as an essential resource in enhancing our understanding of the molecular pathogenic mechanisms underlying SCA12 by facilitating generation of various neuronal cell types. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Zahra S, Kapoor H, Ahmad I, Kamai A, Srivastava AK, Faruq M
Journal Stem cell research
Publication Date 2024 Apr;76:103319
PubMed 38340452
DOI 10.1016/j.scr.2024.103319

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