Article
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).
Stem cell research - 1 Aug 2024
Casamassa Alessia, Rotundo Giovannina, Ceresoni Chiara, Turco Elisa Maria, Torrente Isabella, Candido Ornella, Nicita Francesco, Tonduti Davide, Bertini Enrico, Marano Massimo, Ferrari Daniela, Cereda Cristina, Pennuto Maria, Vescovi Angelo Luigi, Carelli Stephana, Rosati Jessica
Abstract excerpt
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 forming the catalytic core of RNA polymerase III (PolIII). The disease also presents non-neurological signs such as...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.