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Stem Cell Res ; 73: 103249, 2023 12.
Artículo en Inglés | MEDLINE | ID: mdl-38006676

RESUMEN

Non-Floating Harbour Syndrome (FLHS) neurodevelopmental disorder (NDD) is a recently described disorder caused by mutations in certain regions of the SRCAP gene. We generated two iPSC lines that contain truncating mutation on both alleles at the 3'-end of SRCAP using CRISPR/Cas9 technology. Both cell lines are pluripotent, differentiate into the 3 germ layers and contain no genomic aberrations or off-target modifications. The cell lines form part of a human disease model to investigate the effects of truncating mutations in different regions of SRCAP.


Asunto(s)
Sistemas CRISPR-Cas , Células Madre Pluripotentes Inducidas , Humanos , Sistemas CRISPR-Cas/genética , Células Madre Pluripotentes Inducidas/metabolismo , Mutación/genética , Línea Celular , Adenosina Trifosfatasas/genética , Adenosina Trifosfatasas/metabolismo
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