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Stem Cell Res ; 78: 103460, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38861775

RESUMEN

Williams syndrome (WS) is a relatively rare genetic disorder. It arises from a microdeletion in chromosome 7q11.23, resulting in the loss of one copy of more than 20 genes. Disorders in multiple systems, including cardiovascular and nervous systems, occur in patients with WS. Here, we generated two human induced pluripotent stem cell (iPSC) lines from WS patients. Both lines expressed pluripotency markers at gene and protein levels. They possessed normal karyotypes and the potential to differentiate into three germ layers. They serve as a useful tool to study disease mechanism, test drugs, and identify promising therapeutics for patients with WS.


Asunto(s)
Células Madre Pluripotentes Inducidas , Síndrome de Williams , Síndrome de Williams/genética , Síndrome de Williams/patología , Humanos , Células Madre Pluripotentes Inducidas/metabolismo , Línea Celular , Diferenciación Celular , Masculino , Femenino
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