| 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) |
| Authors: |
Casamassa A.; Rotundo G.; Ceresoni C.; Turco E. M.; Torrente I.; Candido O.; Nicita F.; Tonduti D.; Bertini E.; Marano M.; Ferrari D.; Cereda C.; Pennuto M.; Vescovi A. L.; Carelli S.; Rosati J. |
| Contributors: |
Casamassa, A.; Rotundo, G.; Ceresoni, C.; Turco, E. M.; Torrente, I.; Candido, O.; Nicita, F.; Tonduti, D.; Bertini, E.; Marano, M.; Ferrari, D.; Cereda, C.; Pennuto, M.; Vescovi, A. L.; Carelli, S.; Rosati, J. |
| Publication Year: |
2024 |
| Collection: |
Padua Research Archive (IRIS - Università degli Studi di Padova) |
| Description: |
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. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
info:eu-repo/semantics/altIdentifier/pmid/38852424; info:eu-repo/semantics/altIdentifier/wos/WOS:001265000100001; volume:78; journal:STEM CELL RESEARCH; https://hdl.handle.net/11577/3516381 |
| DOI: |
10.1016/j.scr.2024.103468 |
| Availability: |
https://hdl.handle.net/11577/3516381; https://doi.org/10.1016/j.scr.2024.103468 |
| Rights: |
info:eu-repo/semantics/openAccess ; license:Creative commons ; license uri:http://creativecommons.org/licenses/by-nc-nd/4.0/ |
| Accession Number: |
edsbas.F64D5AA7 |
| Database: |
BASE |