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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)

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 :
Alessia Casamassa
Giovannina Rotundo
Chiara Ceresoni
Elisa Maria Turco
Isabella Torrente
Ornella Candido
Francesco Nicita
Davide Tonduti
Enrico Bertini
Massimo Marano
Daniela Ferrari
Cristina Cereda
Maria Pennuto
Angelo Luigi Vescovi
Stephana Carelli
Jessica Rosati
Source :
Stem Cell Research, Vol 78, Iss , Pp 103468- (2024)
Publication Year :
2024
Publisher :
Elsevier, 2024.

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.

Subjects

Subjects :
Biology (General)
QH301-705.5

Details

Language :
English
ISSN :
18735061
Volume :
78
Issue :
103468-
Database :
Directory of Open Access Journals
Journal :
Stem Cell Research
Publication Type :
Academic Journal
Accession number :
edsdoj.0f7761d770824ef197fd91d880bd73f6
Document Type :
article
Full Text :
https://doi.org/10.1016/j.scr.2024.103468