Generation of a human induced pluripotent stem cell line JHUi003-A with homozygous mutation for spinocerebellar ataxia type 12 using genome editing


Spinocerebellar ataxia type 12 (SCA12) is caused by a CAG expansion mutation in PPP2R2B, a gene encoding a brain-specific regulatory unit of protein phosphatase 2A (PP2A); while normal alleles carry 4 to 31 triplets, the disease alleles carry 43 to 78 triplets. Here, by CRISPR/Cas9 genome editing, we have generated a human homozygous SCA12 iPSC line with 69 and 72 triplets for each allele. The homozygous SCA12 iPSCs have normal karyotype, express pluripotency markers and are able to differentiate into the three germ layers. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Feng H, Li Q, Margolis RL, Li PP
Journal Stem cell research
Publication Date 2021 May;53:102346
PubMed 34087983
DOI 10.1016/j.scr.2021.102346

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