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.

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Begentas O. C., Koc D., Sendur N. K., Besarat P., Ezgin S., Temel M., ...Daha Fazla

Stem cell research, cilt.72, ss.103226, 2023 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 72
  • Basım Tarihi: 2023
  • Doi Numarası: 10.1016/j.scr.2023.103226
  • Dergi Adı: Stem cell research
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, Biotechnology Research Abstracts, MEDLINE, Directory of Open Access Journals
  • Sayfa Sayıları: ss.103226
  • Orta Doğu Teknik Üniversitesi Adresli: Evet

Özet

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.