| 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; Torrente, I; Candido, O; Nicita, F; Tonduti, D; Bertini, E; Marano, M; Ferrari, D; Cereda, C; Pennuto, M; Vescovi, A; Carelli, S; Rosati, J; 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 |
| Publisher Information: |
Elsevier BV country:NL 2024 |
| Document Type: |
Electronic Resource |
| 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. |
| Index Terms: |
IPSCs, Leukodystrophy, teratoma, cell models, stem cells; Settore BIOS-10/A - Biologia cellulare e applicata; info:eu-repo/semantics/article |
| URL: |
https://hdl.handle.net/10281/509479; https://www.sciencedirect.com/science/article/pii/S1873506124001661; info:eu-repo/semantics/altIdentifier/pmid/38852424; info:eu-repo/semantics/altIdentifier/wos/WOS:001265000100001; volume:78; issue:August 2024; firstpage:1; lastpage:5; numberofpages:5; journal:STEM CELL RESEARCH |
| Availability: |
Open access content. Open access content; info:eu-repo/semantics/openAccess; license:Creative Commons; license uri:http://creativecommons.org/licenses/by-nc-nd/4.0 |
| Note: |
STAMPA; English |
| Other Numbers: |
ITBAO oai:boa.unimib.it:10281/509479; 10.1016/j.scr.2024.103468; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85195284014; 1456740400 |
| Contributing Source: |
BICOCCA OPEN ARCH; From OAIster®, provided by the OCLC Cooperative. |
| Accession Number: |
edsoai.on1456740400 |
| Database: |
OAIster |