Production of an induced pluripotent stem cell line CSSi018-A (14192) from a patient with hypomyelinating leukodystrophy 7 (HLD7) carrying biallelic variants of POLR3A (c.1802 T > A; c.4072G > A)

Hypomyelinating leukodystrophies (HLD) are a group of heterogeneous genetic disorders characterized by a deficit in myelin deposition during brain development. Specifically, 4H-Leukodystrophy is a recessive disease due to biallelic mutations in the POLR3A gene, which encodes one of the subunits form...

Fuld beskrivelse

Bibliografiske detaljer

Principais autores:	Alessia Casamassa, Giovannina Rotundo, Chiara Ceresoni, Elisa Maria Turco, Isabella Torrente, Ornella Candido, Francesco Nicita, Davide Tonduti, Enrico Bertini, Massimo Marano, Daniela Ferrari, Cristina Cereda, Maria Pennuto, Angelo Luigi Vescovi, Stephana Carelli, Jessica Rosati
Format:	Artigo
Sprog:	Inglês
Udgivet:	Elsevier 2024-08-01
Serier:	Stem Cell Research
Online adgang:	http://www.sciencedirect.com/science/article/pii/S1873506124001661
Tags:	Tilføj Tag Ingen Tags, Vær først til at tagge denne postø!