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Stem Cell Res ; 78: 103468, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38852424

ABSTRACT

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 hypodontia and hypogonadotropic hypogonadism. Here, we report the generation of a human induced pluripotent stem cell (hiPSC) line from fibroblasts of the first identified carrier of the biallelic POLR3A variants c.1802 T > A and c.4072G > A.


Subject(s)
Induced Pluripotent Stem Cells , RNA Polymerase III , Humans , Induced Pluripotent Stem Cells/metabolism , RNA Polymerase III/genetics , RNA Polymerase III/metabolism , Cell Line , Hereditary Central Nervous System Demyelinating Diseases/genetics , Hereditary Central Nervous System Demyelinating Diseases/pathology , Male , Alleles
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