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).
Stem Cell Res
; 78: 103468, 2024 Aug.
Article
in En
| MEDLINE
| ID: mdl-38852424
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
RNA Polymerase III
/
Induced Pluripotent Stem Cells
Limits:
Humans
/
Male
Language:
En
Journal:
Stem Cell Res
Year:
2024
Document type:
Article
Affiliation country: