Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vector.
Stem Cell Res
; 77: 103431, 2024 Jun.
Article
en En
| MEDLINE
| ID: mdl-38703669
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.
Texto completo:
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Bases de datos:
MEDLINE
Asunto principal:
Sialiltransferasas
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Células Madre Pluripotentes Inducidas
Límite:
Adolescent
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Female
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Humans
Idioma:
En
Revista:
Stem Cell Res
Año:
2024
Tipo del documento:
Article
País de afiliación:
Italia