Human induced pluripotent stem cell line (ONHi001-A) generated from a patient with infantile neuroaxonal dystrophy having PLA2G6 c.517C > T (p.Q173X) and c.1634A > G (p.K545R) compound heterozygous mutations.
Stem Cell Res
; 69: 103122, 2023 06.
Article
in En
| MEDLINE
| ID: mdl-37209469
ABSTRACT
Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disease caused mainly by homozygous or compound heterozygous mutations in the PLA2G6 gene. We generated a human induced pluripotent stem cell (hiPSC) line (ONHi001-A) using fibroblasts derived from a patient with INAD. The patient exhibited c.517C > T (p.Q173X) and c.1634A > G (p.K545R) compound heterozygous mutations in the PLA2G6 gene. This hiPSC line may be useful for studying the pathogenic mechanism underlying INAD.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Neuroaxonal Dystrophies
/
Neurodegenerative Diseases
/
Induced Pluripotent Stem Cells
Limits:
Humans
Language:
En
Journal:
Stem Cell Res
Year:
2023
Document type:
Article
Affiliation country:
Japan