Characterization of UMi031-A-2 inducible pluripotent stem cell line with a neurofibromatosis type 2-associated mutation

Aida Nourbakhsh; Nicholas C. Gosstola; Cristina Fernandez-Valle; Derek M. Dykxhoorn; Xue Zhong Liu

Stem Cell Research (Aug 2021)

Characterization of UMi031-A-2 inducible pluripotent stem cell line with a neurofibromatosis type 2-associated mutation

Aida Nourbakhsh,
Nicholas C. Gosstola,
Cristina Fernandez-Valle,
Derek M. Dykxhoorn,
Xue Zhong Liu

Affiliations

Aida Nourbakhsh: Department of Otolaryngology, University of Miami Miller, School of Medicine, Miami, FL 33136, USA
Nicholas C. Gosstola: Department of Otolaryngology, University of Miami Miller, School of Medicine, Miami, FL 33136, USA
Cristina Fernandez-Valle: Burnett School of Biomedical Science, College of Medicine, University of Central Florida, Orlando, FL 32827, USA
Derek M. Dykxhoorn: John P. Hussman Institute for Human Genomics, John T Macdonald Foundation, Department of Human Genetics, University of Miami Miller, School of Medicine, Miami, FL 33136, USA
Xue Zhong Liu: Department of Otolaryngology, University of Miami Miller, School of Medicine, Miami, FL 33136, USA; John P. Hussman Institute for Human Genomics, John T Macdonald Foundation, Department of Human Genetics, University of Miami Miller, School of Medicine, Miami, FL 33136, USA; Corresponding author at: University of Miami Miller, School of Medicine, 1120 NW 14th Street, 5th Floor, Miami, FL 33136, USA.

Journal volume & issue: Vol. 55
p. 102474

Abstract

Read online

The UMi031-A-2 hiPSC line contains a CRISPR-induced homozygous, Neurofibromatosis Type 2 (NF2) mutation (L64P (CTG > CCG)) in the NF2 gene that encodes a merlin tumor suppressor. This line was generated from an unaffected iPSC line using CRISPR technology and characterized for pluripotency and karyotypic stability. The c.191 T > C variant in NF2 is associated with a syndromic nervous system tumor disorder leading to the development of bilateral vestibular schwannomas. Once differentiated into Schwann cells, UMi031-A-2 can serve as a resource for the analysis of signaling pathways deregulated upon merlin defects and provide a pre-clinical platform for testing therapies for NF2 schwannomas.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

About the journal