Induced pluripotent stem cells from subjects with Lesch-Nyhan disease
Abstract Lesch-Nyhan disease (LND) is an inherited disorder caused by pathogenic variants in the HPRT1 gene, which encodes the purine recycling enzyme hypoxanthine–guanine phosphoribosyltransferase (HGprt). We generated 6 induced pluripotent stem cell (iPSC) lines from 3 individuals with LND, along...
Guardado en:
Autores principales: | Diane J. Sutcliffe, Ashok R. Dinasarapu, Jasper E. Visser, Joery den Hoed, Fatemeh Seifar, Piyush Joshi, Irene Ceballos-Picot, Tejas Sardar, Ellen J. Hess, Yan V. Sun, Zhexing Wen, Michael E. Zwick, H. A. Jinnah |
---|---|
Formato: | article |
Lenguaje: | EN |
Publicado: |
Nature Portfolio
2021
|
Materias: | |
Acceso en línea: | https://doaj.org/article/957b5bb790da4d86aa190f7843f35d1e |
Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
Ejemplares similares
-
Enfermedad de Lesch-Nyhan
por: Schlager C,German, et al.
Publicado: (1986) -
Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch–Nyhan syndrome
por: Mandeep Rana, et al.
Publicado: (2021) -
Síndrome de Lesch-Nyhan y automutilación oral. Reporte de un caso
por: Campolo González,Andrés, et al.
Publicado: (2018) -
Potential molecular link between the β-amyloid precursor protein (APP) and hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme in Lesch-Nyhan disease and cancer
por: Khue Vu Nguyen
Publicado: (2021) -
Teledermatology in the Control of Skin Neglected Tropical Diseases: A Systematic Review
por: Tejas Joshi, et al.
Publicado: (2021)