CAPRIN1 gene encodes a RNA-binding protein, abundant in the brain where it plays a crucial role, regulating the transport and translation of mRNAs of synaptic proteins. CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder characterized by language impairment/speech delay, intellectual disability, attention deficit, hyperactivity disorder, and autism spectrum disorder. To understand the pathogenesis of this disorder and in view of future treatment, we generated human induced pluripotent stem cells (iPSCs) from a patient carrying the c.1744C>T CAPRIN1 variant. The line show marker expression for the pluripotency and the capacity to differentiate into the three germ layers.
Derivation of the IGGi006-A stem cell line from a patient with CAPRIN1 haploinsufficiency
Martinheira da Silva, Joana Soraia;Bocciardi, Renata;Baldassari, Simona;Zara, Federico;
2025-01-01
Abstract
CAPRIN1 gene encodes a RNA-binding protein, abundant in the brain where it plays a crucial role, regulating the transport and translation of mRNAs of synaptic proteins. CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder characterized by language impairment/speech delay, intellectual disability, attention deficit, hyperactivity disorder, and autism spectrum disorder. To understand the pathogenesis of this disorder and in view of future treatment, we generated human induced pluripotent stem cells (iPSCs) from a patient carrying the c.1744C>T CAPRIN1 variant. The line show marker expression for the pluripotency and the capacity to differentiate into the three germ layers.
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