AI Article Synopsis
- GM3 synthase deficiency (GM3SD) is linked to mutations in the ST3GAL5 gene, leading to severe symptoms like irritability, feeding issues, seizures, and hearing loss in infants.
- Researchers created and studied a human induced pluripotent stem cell (hiPSC) line from a 13-year-old girl with GM3SD who had two new genetic variants in the ST3GAL5 gene.
- The hiPSC line possesses a normal chromosome structure, expresses markers indicating pluripotency, and can develop into the three primary cell types in the body.
Article Abstract
GM3 synthase deficiency (GM3SD) is caused by biallelic variants in the ST3GAL5 gene. Early clinical features of GM3SD include infantile onset of severe irritability and feeding difficulties, early intractable seizures, growth failure, hypotonia, sensorineural hearing impairment. We describe the generation and characterization the human induced pluripotent stem cell (hiPSC) line derived from fibroblasts of a 13-year-old girl with GM3 synthase deficiency resulted compound heterozygous for two new variants in the ST3GAL5 gene, c.1166A > G (p.His389Arg) and the c.1024G > A (p.Gly342Ser). The generated hiPSC line shows a normal karyotype, expresses pluripotency markers, and is able to differentiate into the three germ layers.
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| http://dx.doi.org/10.1016/j.scr.2024.103431 | DOI Listing |
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Article Synopsis
- GM3 synthase deficiency (GM3SD) is linked to mutations in the ST3GAL5 gene, leading to severe symptoms like irritability, feeding issues, seizures, and hearing loss in infants.
- Researchers created and studied a human induced pluripotent stem cell (hiPSC) line from a 13-year-old girl with GM3SD who had two new genetic variants in the ST3GAL5 gene.
- The hiPSC line possesses a normal chromosome structure, expresses markers indicating pluripotency, and can develop into the three primary cell types in the body.
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