Article
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 - 1 Oct 2023
Begentas Onur Can, Koc Dilara, Sendur Nuriye Kayali, Besarat Peri, Ezgin Sena, Temel Musa, Bora Hatice Ayse Tokcaer, Kiris Erkan
Abstract excerpt
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)...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.