Derivation of two iPSC lines (KAIMRCi004-A, KAIMRCi004-B) from a Saudi patient with Biotin-Thiamine-Responsive Basal Ganglia disease (BTBGD) carrying homozygous pathogenic missense variant in the SCL19A3 gene

Abstract

The neurometabolic disorder known as biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare autosomal recessive condition linked to bi-allelic pathogenic mutations in the SLC19A3 gene. BTBGD is a neurological disorder characterized by progressive encephalopathy, confusion, seizures, dysarthria, dystonia, and severe disabilities. Diagnosis is difficult due to the disease's rare nature and diverse clinical characteristics. The primary treatment for BTBGD at this time is thiamine and biotin supplementation, while its long-term effectiveness is still being investigated. Despite the lack of knowledge related to genotype-phenotype correlations, the derivation of BTBGD-iPSC lines carrying a homozygous mutation in SLC19A3 constitutes a unique cell model to examine the molecular mechanisms underlying the cellular dysfunctions caused by SLC19A3 pathogenic variant and could promote the development of novel therapeutic agents.