Generation of iPSC lines and isogenic gene-corrected lines from two individuals with RPS19-mutated Diamond-Blackfan anemia syndrome.
Stem Cell Res
; 79: 103479, 2024 Sep.
Article
em En
| MEDLINE
| ID: mdl-38908299
ABSTRACT
Diamond-Blackfan anemia syndrome (DBAS) is an inherited bone marrow failure disorder that typically presents in infancy as hypoplastic anemia and developmental abnormalities in approximately 50% of cases. DBAS is caused by haploinsufficiency in one of 24 ribosomal protein genes, with RPS19 mutations accounting for 25% of cases. We generated iPSC lines from two patients with different heterozygous RPS19 mutations (c.191T > C and c.184C > T) and isogenic lines in which the mutations were corrected by Cas9-mediated homology directed repair.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Proteínas Ribossômicas
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Anemia de Diamond-Blackfan
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Células-Tronco Pluripotentes Induzidas
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Mutação
Limite:
Female
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Humans
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Male
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article