Generation of two induced pluripotent stem cell lines with heterozygous and homozygous amyotrophic lateral sclerosis-causing mutation R521G (c.1561C > G) in FUS gene

Masuma Akter; Haochen Cui; Md Abir Hosain; Baojin Ding

doi:10.1016/j.scr.2023.103078

Generation of two induced pluripotent stem cell lines with heterozygous and homozygous amyotrophic lateral sclerosis-causing mutation R521G (c.1561C > G) in FUS gene

Stem Cell Res. 2023 Jun:69:103078. doi: 10.1016/j.scr.2023.103078. Epub 2023 Mar 21.

Authors

Masuma Akter¹, Haochen Cui¹, Md Abir Hosain¹, Baojin Ding²

Affiliations

¹ Department of Biochemistry and Molecular Biology, Louisiana State University Health Sciences, Center at Shreveport, Shreveport, LA 71130-3932, USA.
² Department of Biochemistry and Molecular Biology, Louisiana State University Health Sciences, Center at Shreveport, Shreveport, LA 71130-3932, USA. Electronic address: Baojin.Ding@lsuhs.edu.

Abstract

Mutations in the RNA-binding protein FUS (fused in sarcoma) are linked to amyotrophic lateral sclerosis (ALS), but the pathogenesis is not fully understood. For modeling ALS, here we generated two induced pluripotent stem cell (iPSC) lines carrying the heterozygous and homozygous R521G (c.1561C > G) mutation in the FUS gene via genetic modification of a healthy hiPSC line (WTC11, UCSFi001-A). Both lines show normal stem cell morphology and karyotype, express pluripotent markers, and can differentiate into three germ layers, providing a valuable resource in determining the pathological mechanisms underlying the FUS mutation of R521G in ALS.

Publication types

Research Support, U.S. Gov't, Non-P.H.S.
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Amyotrophic Lateral Sclerosis* / pathology
Heterozygote
Humans
Induced Pluripotent Stem Cells* / metabolism
Karyotype
Mutation / genetics
RNA-Binding Protein FUS / genetics

Substances

FUS protein, human
RNA-Binding Protein FUS

Grants and funding

R21 NS112910/NS/NINDS NIH HHS/United States