1.
Stem Cell Res
; 74: 103267, 2024 02.
Artículo
en Inglés
| MEDLINE
| ID: mdl-38100914
RESUMEN
We generated iPSC line using skin fibroblasts obtained from a female patient affected by Joubert syndrome, caused by two compound heterozygous variants (c.143G > A; p.Gly48Glu and c.1784 T > G; p.Leu595Ter) in CPLANE1. We used Sendai-virus-based technique for reprogramming and then we applied karyotype analysis, to exclude possible acquired big rearrangements. We verified the presence of the same STR profile as fibroblasts, the stem cell state (by immunofluorescence and qPCR) and, finally, the pluripotency state (by in vitro trilineage differentiation).
Asunto(s)
Anomalías Múltiples , Anomalías del Ojo , Células Madre Pluripotentes Inducidas , Enfermedades Renales Quísticas , Humanos , Femenino , Retina , Anomalías del Ojo/genética , Cerebelo , Diferenciación Celular/genética , Mutación/genética
2.
Philippine Journal of Nursing
; : 74-77, 2015.
Artículo
en Inglés
| WPRIM (Pacífico Occidental)
| ID: wpr-632689