Generation and characterization of human induced pluripotent stem cell line METUi002-A from a patient with primary familial brain calcification (PFBC) carrying a heterozygous mutation (c.687dupT (p.Val230CysfsTer28)) in the SLC20A2 gene.
Stem cell research, vol.72, pp.103226, 2023 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 72
- Publication Date: 2023
- Doi Number: 10.1016/j.scr.2023.103226
- Journal Name: Stem cell research
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, Biotechnology Research Abstracts, MEDLINE, Directory of Open Access Journals
- Page Numbers: pp.103226
- Middle East Technical University Affiliated: Yes
Abstract
Primary familial brain calcification (PFBC) is a rare neurological condition characterized by abnormal calcification commonly in basal ganglia and multiple other
brain regions, leading to neuropsychiatric, cognitive, and motor symptoms. SLC20A2, one of the known causative genes for PFBC, contains the highest number of
variants directly associated with the disease. Here, we established an iPSC line (METUi002-A) from the peripheral blood mononuclear cells of a clinically diagnosed
PFBC patient carrying a SLC20A2 mutation (c.687dupT) using the integration-free Sendai reprogramming. METUi002-A can serve as a valuable tool to generate
cellular models to investigate the mechanistic effects of this mutation in PFBC.