Derivation of the IGGi006-A stem cell line from a patient with CAPRIN1 haploinsufficiency
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.
Authors
- Renata Bocciardi (ORCID: https://orcid.org/0000-0001-8415-3802)
- Joana Soraia Martinheira Da Silva
- Domenico Coviello (ORCID: https://orcid.org/0000-0001-8440-865X)
- Sımona Baldassari (ORCID: https://orcid.org/0000-0002-5304-3608)
- Giuseppina Conteduca
- Maria Margherita Mancardi (ORCID: https://orcid.org/0000-0001-5122-4029)
- Alessia Arado
- Federico Zara (ORCID: https://orcid.org/0000-0001-9744-5222)
- Barbara Testa (ORCID: https://orcid.org/0000-0003-3516-2379)
- Chiara Baldo (ORCID: https://orcid.org/0000-0001-7508-3953)
- Michela Malacarne (ORCID: https://orcid.org/0000-0001-8139-1303)
Institutions
- Istituto Giannina Gaslini (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- University of Genoa (IT)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2025-03-13
- DOI
- https://doi.org/10.1016/j.scr.2025.103696
- Citations
- 1
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.82