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

Hongxuan Feng, Qinshan Li, Russell L. Margolis, Pan P. Li

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Article number102346
JournalStem Cell Research
Volume53
DOIs
StatePublished - May 2021

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

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