Preliminary characterization of lysosomal-related genes in two tay sachs variant B1 fibroblast cell lines

Aim: The present work focus on the NGS characterization of lysosomal-related genes in two skin fibroblast cell lines from TSD variant B1 patients with the mutation p.R178H prior to the manipulations to generate hiPSCs and NPCs. Registering the gene variants at “time zero” will allow the eventual det...

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Bibliographic Details
Main Author: Ribeiro, Diogo (author)
Other Authors: Marisa, Encarnação (author), Silva, Lisbeth (author), Duarte, Ana Joana (author), Alves, Sandra (author), Amaral, Olga (author)
Format: conferenceObject
Language:eng
Published: 2022
Subjects:
Human Genetics
Tay Sachs variant B1
iPSC
Cell Models
NGS
Doenças Genéticas
Online Access:http://hdl.handle.net/10400.18/8132
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/8132
Description
Summary:Aim: The present work focus on the NGS characterization of lysosomal-related genes in two skin fibroblast cell lines from TSD variant B1 patients with the mutation p.R178H prior to the manipulations to generate hiPSCs and NPCs. Registering the gene variants at “time zero” will allow the eventual detection of future alterations.

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