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1.
Stem Cell Res ; 76: 103367, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38479087

RESUMEN

Many developmental and epileptic encephalopathies (DEEs) result from variants in cation channel genes. Using mRNA transfection, we generated and characterised an induced pluripotent stem cell (iPSC) line from the fibroblasts of a male late-onset DEE patient carrying a heterozygous missense variant (E1211K) in Nav1.2(SCN2A) protein. The iPSC line displays features characteristic of the human iPSCs, colony morphology and expression of pluripotency-associated marker genes, ability to produce derivatives of all three embryonic germ layers, and normal karyotype without SNP array-detectable abnormalities. We anticipate that this iPSC line will aid in the modelling and development of precision therapies for this debilitating condition.


Asunto(s)
Encefalopatías , Células Madre Pluripotentes Inducidas , Humanos , Masculino , Células Madre Pluripotentes Inducidas/metabolismo , Mutación Missense , Heterocigoto , Mutación , Canal de Sodio Activado por Voltaje NAV1.2/genética
2.
Mycol Res ; 107(Pt 5): 528-36, 2003 May.
Artículo en Inglés | MEDLINE | ID: mdl-12884949

RESUMEN

Five species of pathogenic fungi belong to Neofabraea. One of these, N. krawtzewii (syn. N. populi), is responsible for bark lesions on poplar (Populus) trees. The other four species cause post-harvest bull's eye rot of pome fruits, and at least two of these also cause bark cankers on pome fruit trees. Morphological variation among these species is slight, and overlap in geographic range sometimes occurs. As a consequence, identification based on conventional criteria can be tenuous. PCR primers with putative species specificity were developed following genetic analysis of the beta-tubulin gene for isolates of each of the five species of Neofabraea. PCR conditions required to achieve specificity of the primer sets were determined, and a multiplex PCR protocol was developed to optimize their diagnostic utility on apple fruits. A protocol with higher annealing temperatures in the initial PCR cycles followed by lower temperatures in later cycles gave complete species-specificity when the primer sets were used individually and in multiplex, resulting in successful detection of the pathogens from axenic culture and infected apple fruits.


Asunto(s)
Ascomicetos/clasificación , Malus/microbiología , Enfermedades de las Plantas/microbiología , Reacción en Cadena de la Polimerasa/métodos , Ascomicetos/genética , Cartilla de ADN , ADN de Hongos/análisis , ADN de Hongos/aislamiento & purificación , Técnicas de Tipificación Micológica , Técnicas de Amplificación de Ácido Nucleico , Especificidad de la Especie , Árboles/microbiología
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