{Reference Type}: Journal Article
{Title}: 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).
{Author}: Casamassa A;Rotundo G;Ceresoni C;Turco EM;Torrente I;Candido O;Nicita F;Tonduti D;Bertini E;Marano M;Ferrari D;Cereda C;Pennuto M;Vescovi AL;Carelli S;Rosati J;
{Journal}: Stem Cell Res
{Volume}: 78
{Issue}: 0
{Year}: 2024 Aug 6
{Factor}: 1.587
{DOI}: 10.1016/j.scr.2024.103468
{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.