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
Author:
Funder
Türkiye Sağlık Enstitüleri Başkanlığı
Publisher
Elsevier BV
Subject
Cell Biology,Developmental Biology,General Medicine
Reference5 articles.
1. Establishment of human induced pluripotent stem cells from multiple sclerosis patients;Begentas;Methods Mol. Biol.,2022
2. The clinical and genetic spectrum of primary familial brain calcification;Carecchio;J. Neurol.,2023
3. The genetics of primary familial brain calcification: a literature review;Chen;Int. J. Mol. Sci.,2023
4. Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series;Magistrelli;Neurogenetics,2021
5. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis;Wang;Nat. Genet.,2012
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