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)
Summary
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. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | 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 |
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| Journal | Stem cell research |
| Publication Date | 2024 Aug;78:103468 |
| PubMed | 38852424 |
| DOI | 10.1016/j.scr.2024.103468 |